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Describe the genetic determinants of common epilepsies | Genetic determinants of common epilepsies are defined as the interaction of mutations in one of two unlinked genes, SCN1 and SCN2, which code for the proteins hamartin and epilepticin, respectively. Disruption of these genes has been found to be associated with epileptic encephalopathies, but it is not entirely clear i... | BACKGROUND: The epilepsies are a clinically heterogeneous group of neurological
disorders. Despite strong evidence for heritability, genome-wide association
studies have had little success in identification of risk loci associated with
epilepsy, probably because of relatively small sample sizes and insufficient
pow... |
Should nerinetide be used for treatment of ischaemic stroke? | Nerinetide did not improve the proportion of ischemic stroke patients achieving good clinical outcomes after endovascular thrombectomy compared with patients receiving placebo. | |
What is the role of alcohol acyl transferases in fruit aroma? | Volatile esters, a major class of compounds contributing to the aroma of many fruit, are synthesized by alcohol acyl-transferases (AAT).
The expression of all Cm-AAT genes is up-regulated during ripening and inhibited in antisense ACC oxidase melons and in fruit treated with the ethylene antagonist 1-methylcyclopropene... | Two genes (CM-AAT1 and CM-AAT2) with strong sequence homology (87% identity at
the protein level) putatively involved in the formation of aroma volatile esters
have been isolated from Charentais melon fruit. They belong to a large and
highly divergent family of multifunctional plant acyl-transferases and show at
mo... |
What is Hikikomori syndrome? | The 'Hikikomori' syndrome (HS) consists of prolonged and severe social withdrawal. | A form of severe social withdrawal, called hikikomori, has been frequently
described in Japan and is characterized by adolescents and young adults who
become recluses in their parents' homes, unable to work or go to school for
months or years. The aim of this study was to review the evidence for hikikomori
as a new... |
Which gene is primarily associated with the Saethre-Chotzen syndrome? | Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally . It is caused by cytogenetic deletions or mutations of the TWIST1 gene . Of the 37 patients with classic features of the syndrome, the overall detection rate for TWIST mutations was 68% . Increased risk for developmental delay ... | Saethre-Chotzen syndrome is one of the most common autosomal domit disorders
of craniosynostosis in humans and is characterized by craniofacial and limb
anomalies. The locus for Saethre-Chotzen syndrome maps to chromosome 7p21-p22.
We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a
candida... |
List 4 targeted synthetic DMARDs that are JAK inhibitors. | Targeted synthetic (ts) DMARDs that are Janus kinase (JAK) inhibitors include tofacitinib, baricitinib, filgotinib, upadacitinib. | |
Which microRNAs are involved in targeting CYLD in triple negative breast cancer? | Mir-182 and miR-301b are involved in targeting CYLD in triple negative breast cancer. | Overexpression of microRNA-182 (miR-182) is found in multiple cancers, but the
association of miR-182 expression with the sensitivity of triple-negative breast
cancer (TNBC) cells to tumor necrosis factor-alpha (TNF-α) remains unknown. In
this study, up-regulation of miR-182 was validated in TNBC patients and cell
... |
Which drugs were tested in the candor trial? | CANDOR trial investigated carfilzomib, dexamethasone, and daratumumab for patients with relapsed or refractory multiple myeloma. | In this review, we summarize novel clinical data on multiple myeloma (MM) that
were presented at the 2019 annual meeting of the American Society of Hematology.
The Master trial showed that a response-adapted approach may effectively guide
therapeutic decisions in terms of treatment intensification after autologous
... |
Which are the parts of a flaggelum? | The bacterial flagellum is a supramolecular motility machine consisting of the basal body, the hook, and the filament.
The axial structure of the flagellum consists of the rod, hook, junction, filament, and cap. | The bacterial flagellum is a filamentous organelle extending from the cell
surface. The axial structure of the flagellum consists of the rod, hook,
junction, filament, and cap. The axial structure is formed by axial component
proteins exported via a specific protein export apparatus in a well-regulated
manner. Alth... |
Why are male calico cats rare? | The tortoiseshell coat color is characteristic to female cats, and its occurrence in tomcats is very rare and associated with the presence of an additional copy of X chromosome. | A syndrome in male cats analogous to chromatin-positive Klinefelter's syndrome
in human males has been demonstrated. The physical characteristics which
suggested an abnormality of chromosome number in cats were "calico" or
"tortoise-shell" coat colors in a male. Buccal mucosal smears were found to have
"female-type... |
Which master regulator drives liver development? | Hepatocyte nuclear factor (HNF)4α regulates fetal liver development. | BACKGROUND: Nonsense-mediated mRNA decay (NMD) is a post-transcriptional RNA
surveillance process that facilitates the recognition and destruction of mRNAs
bearing premature terminations codons (PTCs). Such PTC-containing (PTC+) mRNAs
may arise from different processes, including erroneous processing and
expression... |
Are there small molecule CGRPs under development for the treatment of migraine? | Yes, there are several small molecule CGRPs under development for the treatment of migraine. | Calcitonin gene-related peptide (CGRP) is a signaling neuropeptide released from
activated trigeminal sensory afferents in headache and facial pain disorders.
There are a handful of CGRP-targeted therapies currently in phase 3 studies for
migraine acute treatment or prevention. Currently, 4 monoclonal antibodies
ta... |
Which subcortical brain structure is influenced the most by common genetic variants? | The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. Five novel genetic variants influencing the volu... | Author information:
(1)Imaging Genetics Center, Institute for Neuroimaging &Informatics, Keck School
of Medicine of the University of Southern California, Los Angeles, California
90292, USA.
(2)1] Imaging Genetics Center, Institute for Neuroimaging &Informatics, Keck
School of Medicine of the University of Southern ... |
Givosiran is used for treatment of which disease? | Givosiran is approved for treatment of porphyria. | BACKGROUND: Induction of delta aminolevulinic acid synthase 1 ( ALAS1) gene
expression and accumulation of neurotoxic intermediates result in neurovisceral
attacks and disease manifestations in patients with acute intermittent
porphyria, a rare inherited disease of heme biosynthesis. Givosiran is an
investigational... |
List mediators that are released from mast cells? | tryptase
histamine
heparin proteoglycan
chymase
cytokines
2,3-dinor-11β-PGF2α
leukotriene (LT)E4 | beta-Tryptase, a product of the TPSAB1 and TPSB2 genes, is a trypsin-like serine
protease that is a major and selective component of the secretory granules of
all human mast cells, accounting for as much as 25% of cell protein. Once mast
cells are activated, beta-tryptase is released along with histamine and heparin... |
What is Exencephaly? | Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull | Exencephaly is said to precede anencephaly resulting from failure of the rostral
neuropore closure. In order to verify if the exencephaly induced after neural
tube closure would also lead to anencephaly, exencephaly was induced in rat
fetuses by maternal administration of a single dose (15 mg/kg) of
cyclophosphamid... |
What is the role of TNF in obesity? | The role of TNF in obesity is not fully understood, but it is thought to play a major role in adipose tissue formation and fat storage. TNF-alpha is a protein that has been shown to increase fat storage in fat cells. It is also thought to have a role in insulin resistance. | Tumor necrosis factor-alpha (TNF-alpha) has been shown to have certain catabolic
effects on fat cells and whole animals. An induction of TNF-alpha messenger RNA
expression was observed in adipose tissue from four different rodent models of
obesity and diabetes. TNF-alpha protein was also elevated locally and
system... |
Is eptinezumab a small molecule? | No, eptinezumab is a humanized monoclonal antibody. | Eptinezumab-jjmr (referred to as eptinezumab hereafter; Vyepti™) is a humanised
monoclonal antibody that binds to calcitonin gene-related peptide (CGRP) and
blocks its binding to the receptor. CGRP is believed to play a major role in the
pathophysiology of migraine. Eptinezumab, delivered by intravenous (IV)
admini... |
Describe the Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium | The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIG... | Thompson PM(1), Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R,
Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M,
Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA,
Apostolova LG, Appel K, Armstrong NJ, Aribisala B, Bastin ME, Bauer M, Bearden
CE, Berg... |
Inhaled Molgramostim can be used for treatment of which disease? | Inhaled Molgramostim was shown to be effective for Autoimmune Pulmonary Alveolar Proteinosis. | |
Which are the main functions of the annexin family? | Annexins are required for membrane organization and membrane transport events required for the establishment/maintenance of epithelial polarity.
An association of annexins with ion channels, as membrane-guiding auxiliary proteins or modulators of channel activity.
Last but not least, some annexins seem to work as ext... | This review article summarizes current knowledge about the locations and
possible functions of annexin family members in the kidney. Beginning with an
introduction on common structural and biochemical features as well as general
functional characteristics of annexins, the paper focuses on individual members
with do... |
Please list the 2 vaccines for herpes zoster(shingles) | live attenuated zoster vaccine (Zostavax®) and live attenuates herpes zoster (Shingles) are effective for treatment of infections with herpesZoster(shingles). | A live attenuated varicella-zoster vaccine (Zostavax--Merck) has been approved
by the FDA for prevention of herpes zoster (HZ; zoster; shingles) in persons >
or = 60 years old. Each dose of Zostavax contains about 14 times as much
varicella-zoster virus (VZV) as Varivax, which has been used in the US since
1995 to ... |
What is a likely origin of intronless genes? | More than half of SEGs identified in most of the species have at least one ortholog multiple exon gene in the same genome, which provides insight to their possible origin by retrotransposition | In Teleost fish examined to date the ocular rod opsin gene, rho, is intronless,
unlike the rod opsin genes of other vertebrate classes which possess a five
exon/four intron structure. We have examined in silico the structure of rho
(which is expressed uniquely in the retina) and the closely related extraretinal
rod... |
Which company developed ivosidenib? | Ivosidenib has been developed by Agios Pharmaceuticals. | Isocitrate dehydrogenase (IDH) is a key enzyme involved in the conversion of
isocitrate to α-ketoglutarate (α-KG) in the tricarboxylic acid (TCA) cycle. IDH
mutation produces a neomorphic enzyme, which can lead to the abnormal
accumulation of R-2-HG and promotes leukemogenesis. IDH mutation occurs in 20%
of acute m... |
Is the apilimod inhibitor effective against SARS-CoV-2? | To identify therapeutics that can be repurposed as SARS-CoV-2 antivirals, a library of known drugs encompassing approximately 12,000 clinical-stage or FDA-approved small molecules were profiled. In a study the identification of 30 known drugs that inhibit viral replication was reportedd. Of these, six were characterize... | The emergence of novel SARS coronavirus 2 (SARS-CoV-2) in 2019 has triggered an
ongoing global pandemic of severe pneumonia-like disease designated as
coronavirus disease 2019 (COVID-19). To date, more than 2.1 million confirmed
cases and 139,500 deaths have been reported worldwide, and there are currently
no medic... |
Is Lanabecestat effective for Alzheimer's disease? | No. Treatment with lanabecestat was well tolerated and did not slow cognitive or functional decline of Alzheimer's disease patients. | IMPORTANCE: Alzheimer disease (AD) is a neurodegenerative disorder characterized
by cognitive deterioration and impaired activities of daily living. Current
treatments provide only minor symptomatic improvements with limited benefit
duration. Lanabecestat, a brain-permeable inhibitor of human beta-site amyloid
prec... |
How is the STING protein activated? | During DNA virus infections, detection of cytosolic DNA by the cGAS-STING pathway leads to activation of IFN-β. | The innate immune response is crucial for defense against viral infections.
Cells recognize virus infection through pattern recognition receptors and induce
type I interferons as well as proinflammatory cytokines to orchestrate an innate
immune response. Herpes simplex virus 1 (HSV-1) triggers both the cyclic GMP-AM... |
Explain the use of Radio Frequency Ablation as a treatment | Radio-frequency ablation (RFA) is a promising minimal-invasive treatment option for treatment of, cancer, pain, tissue hyperplasia and cardiac arrhythmias cancer, triggering tissue necrosis and results in reduced tumor volumes. | PURPOSE: To evaluate the feasibility of a technique of MR-guided stereotactic
radio frequency ablation, which was developed as a minimally invasive treatment
for brain tumors, and to determine MR characteristics and sequential evolution
of radio frequency lesions created to ablate brain tumors.
METHODS: Fourteen les... |
What does "28" stand for in the Disease Activity Score DAS28? | It stands for the Disease Activity Score 28 Joint Index (DAS28). It’s basically a measure of how active a patient is in regards to how active they are in relation to the DAS28. The 28 joint DAS (28 joints) is a way to measure how active the patient is compared to other people with the same disease. | OBJECTIVE: To study the extent to which muscle strength and performance, pain,
and disease activity are associated with the total Health Assessment
Questionnaire (HAQ) disability index and its subdimensions in male and female
patients with rheumatoid arthritis.
METHODS: HAQ for functional capacity was completed by 1... |
What is EPICCURE? | EPICCURE is an ongoing randomized, double-blind, placebo-controlled study of the safety of AZD8601 in patients with moderately decreased left ventricular function (ejection fraction 30%-50%) undergoing elective coronary artery bypass surgery. EPICCURE combines high-efficiency delivery with quantitative targeting and fo... | |
List updates for JASPAR 2020 | JASPAR (http://jaspar.genereg.net) is an open-access database of curated, non-redundant transcription factor (TF)-binding profiles stored as position frequency matrices (PFMs) for TFs across multiple species in six taxonomic groups. In this 8th release of JASPAR, the CORE collection has been expanded with 245 new PFMs ... | |
Was golimumab tested for diabetes? | Yes, among children and young adults with newly diagnosed overt type 1 diabetes, golimumab resulted in better endogenous insulin production and less exogenous insulin use than placebo. | BACKGROUND: Type 1 diabetes is an autoimmune disease characterized by
progressive loss of pancreatic beta cells. Golimumab is a human monoclonal
antibody specific for tumor necrosis factor α that has already been approved for
the treatment of several autoimmune conditions in adults and children. Whether
golimumab c... |
Is G3BP1 found in stress granules? | Yes,
RAS GTPase-activating protein-binding protein (G3BP1) is an RNA-binding protein that is essential for assembling stress granules. | |
What is Progeria? | Hutchinson-Gilford progeria syndrome is a segmental premature aging disease causing patient death by early teenage years from cardiovascular dysfunction. | Progeria is a rare genetic disease with striking features that resemble
accelerated aging. The inheritance pattern, paternal age effect, and lack of
consanguinity argue that it is due to a sporadic domit mutation. We have
observed elevated levels of hyaluronic acid (HA) excretion in progeria patients.
In several pr... |
Describe CrossICC | CrossICC is an R package designed for the unsupervised clustering of gene expression data from multiple datasets/platforms without the requirement of batch effect adjustment. CrossICC utilizes an iterative strategy to derive the optimal gene signature and cluster numbers from a consensus similarity matrix generated by ... | Unsupervised clustering of high-throughput gene expression data is widely
adopted for cancer subtyping. However, cancer subtypes derived from a single
dataset are usually not applicable across multiple datasets from different
platforms. Merging different datasets is necessary to determine accurate and
applicable ca... |
Which receptor is blocked by Finerenone? | Finerenone is a nonsteroidal mineralocorticoid receptor antagonist. | INTRODUCTION: The mineralocorticoid receptor antagonists (MRAs) spironolactone
and eplerenone reduce the risk of hospitalizations and mortality in patients
with heart failure (HF) with reduced ejection fraction (HFrEF), and attenuate
progression of diabetic kidney disease. However, their use is limited by the
fear ... |
Is colistin an antibiotic? | Yes,
colistin is an antibiotic. | BACKGROUND: Uropathogenic Escherichia coli (UPEC) is a major cause of Urinary
Tract Infections (UTIs). Due to increasing antibiotic-resistance among UPEC
bacteria, new treatment options for UTIs are urgently needed.
OBJECTIVE: To identify new agents targeting growing bacteria that may be used
for the treatment of an... |
Is Tocilizumab (Actemra) used to block/antagonize the IL-6 receptor? | yes, tocilizumab (actemra) is used to block/antagonize the il-6 receptor. | Roche is co-developing tocilizumab (Actemra, RoActemra), a humanized
anti-interleukin-6 receptor (IL-6R) monoclonal antibody, with Chugai
Pharmaceutical. Tocilizumab is marketed in Japan for Castleman disease and
several types of arthritis. The product is approved in the European Union for
treatment of moderate-to-... |
Is the process of DNA loop-extrusion independent of ATP? | The process of DNA loop-extrusion is not independent of ATP. It is dependent on the energy of ATP hydrolysis. | Type I restriction enzymes use two motors to translocate DNA before carrying out
DNA cleavage. The motor function is accomplished by amino-acid motifs typical
for superfamily 2 helicases, although DNA unwinding is not observed. Using a
combination of extensive single-molecule magnetic tweezers and stopped-flow bulk ... |
What is the effect of carbamazepine on CYP3A4? | Carbamazepine is an inducer of CYP3A4. | Vixotrigine is a voltage- and use-dependent Nav1.7 channel blocker under
investigation for the treatment of peripheral neuropathic pain conditions,
including trigeminal neuralgia. Vixotrigine is metabolized primarily via uridine
diphosphate-glucuronosyltransferases (UGTs). Carbamazepine, a UGT and cytochrome
P450 3... |
Is there an upper limit on the functional fraction of the human genome? | Mutational load considerations lead to the conclusion that the functional fraction within the human genome cannot exceed 25%, and is probably considerably lower. | For the human population to maintain a constant size from generation to
generation, an increase in fertility must compensate for the reduction in the
mean fitness of the population caused, among others, by deleterious mutations.
The required increase in fertility due to this mutational load depends on the
number of... |
What is Couvelaire Uterus? | Couvelaire uterus is hematic infiltration uterine myometrium due to the formation of a massive hematoma. It is charecterised by dark purple patches with ecchymosis and indurations. | Uteroplacental apoplexy is a rare but nonfatal complication of severe forms of
placental abruption. It occurs when vascular damage within the placenta causes
hemorrhaging that progresses to and infiltrates the wall of the uterus. It is a
syndrome that can only be diagnosed by direct visualization or biopsy (or both)... |
What protein is Otof gene encoding? | The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs) | BACKGROUND: Hereditary hearing loss is characterized by a very high genetic
heterogeneity. The OTOF (Locus: DFNB9), encoding otoferlin, is reported to be
one of the major causes of non-syndromic hearing loss, and is also reported to
be the most common cause of non-syndromic recessive auditory neuropathy spectrum
di... |
What is hypercapnia? | Hypercapnia is also known as High CO2 retention. | The effect of hypercapnia (an increase in CO(2) concentration in the blood) on
the functional magnetic resoce imaging (fMRI) blood oxygenation level
dependent (BOLD) haemodynamic response has been well characterised and is
commonly used for BOLD calibration. However, relatively little is known of the
effect of hype... |
What is TSA-Seq used for? | TSA-Seq provides a "cytological ruler" for estimating mean chromosomal distances from nuclear speckles genome-wide and for predicting several Mbp chromosome trajectories between nuclear compartments without sophisticated computational modeling. | While nuclear compartmentalization is an essential feature of three-dimensional
genome organization, no genomic method exists for measuring chromosome distances
to defined nuclear structures. In this study, we describe TSA-Seq, a new mapping
method capable of providing a "cytological ruler" for estimating mean
chro... |
Does the HercepTest use a polycloncal or monoclonal antibody? | The HercepTest uses a polyclonal antibody. | We compared a monoclonal antibody (SV2-61γ) and a polyclonal antibody (Dako
HercepTest) in immunohistochemical assessments of human epidermal growth factor
receptor 2 (HER2) expression in 73 samples of advanced gastric cancer. Results
were scored as 0 to 3+, and equivocal or discordant (SV2-61γ/Dako HercepTest =
0/... |
Describe participants' experiences from the 100,000 genomes project | Interviewees' decisions to participate in 100 kG P were based on interpersonal and institutional trust in the NHS, and on an investment in improving care for the future. Interviewees relied upon receiving good ongoing NHS care for managing their own or their child's rare disease, but they worried about what their relat... | |
What is the role of elagolix in treatment of uterine fibroids? | Elagolix is approved for the treatment of moderate to severe pain caused by endometriosis. Elagolix is also effective for heavy bleeding caused by uterine fibroids. | OBJECTIVE: To evaluate the safety and efficacy of elagolix vs. placebo and
elagolix with low-dose E2/progestogen add-back therapy.
DESIGN: Proof-of-concept, dose-ranging, multiple-cohort study.
SETTING: Clinics.
PATIENT(S): Premenopausal women with fibroids and heavy menstrual bleeding
(menstrual blood loss [MBL] >80... |
Where is the organ of Corti located? | The cochlea, a coiled structure located in the ventral region of the inner ear, acts as the primary structure for the perception of sound. Along the length of the cochlear spiral is the organ of Corti, a highly derived and rigorously patterned sensory epithelium that acts to convert auditory stimuli into neural impulse... | Several factors trigger apoptosis in cochlear hair cells. Previous studies have
shown that mitochondria play key roles in apoptosis, but the role of
mitochondrial deoxyribonucleic acid (mtDNA) copy number in the pathogenesis of
hair cell apoptosis remains largely unknown. We used mouse cochlear hair cells
and House... |
What eye disease(s) are associated with ocular toxoplasmosis? | Retinochoroiditis is the most frequent manifestation of congenital toxoplasmosis Infectious uveitis accounted for 37% of posterior uveitis cases of which toxoplasmosis was the most common cause. Toxoplasmosis was the most common cause of posterior uveitis (60%) | BACKGROUND: Retinochoroiditis is the most common ocular manifestation of
congenital toxoplasmosis, but other associated ophthalmological pathologies can
also occur. The aim of this study was to determine the nature of the latter in
treated cases of the disease and to assess their impact on visual function.
METHODS: ... |
Which eukaryote genomes contain operons? | Genes in nematode and ascidian genomes frequently occur in operons such genes comprise 15-20% of the coding genome for Caenorhabditis elegans and Ciona intestinalis We find that birth-death models of operon evolution reasonably describe the relative abundance of operons of different sizes in the C. elegans and Ciona ge... | The nematode worm Caenorhabditis elegans and its relatives are unique among
animals in having operons. Operons are regulated multigene transcription units,
in which polycistronic pre-messenger RNA (pre-mRNA coding for multiple peptides)
is processed to monocistronic mRNAs. This occurs by 3' end formation and
trans-... |
What has capmatinib received FDA approval for in 2020? | In May 2020, oral capmatinib received its first global approval in the USA for the treatment of adults with metastatic non-small cell lung cancer (NSCLC) whose tumours have a mutation that leads to MET exon 14 skipping, as detected by an FDA-approved test. | Capmatinib (Tabrecta™) is an oral, small molecule mesenchymal-epithelial
transition (MET) inhibitor being developed by Novartis Oncology, under a license
from Incyte Corporation, for the treatment of lung cancer. Capmatinib targets
and selectively binds to MET, including the mutant variant produced by exon 14
skipp... |
Is SLIC-CAGE used for quantification of translation? | No. Cap analysis of gene expression (CAGE) is a method used for single-nucleotide resolution detection of RNA polymerase II transcription start sites (TSSs). Accurate detection of TSSs enhances identification and discovery of core promoters. In addition, active enhancers can be detected through signatures of bidirectio... | |
Does hypofractionated radiotherapy offers any benefit for DIPG? | No. Hypofractionated radiotherapy does not offers benefit when compared to conventional fractionated radiation therapy for DIPG. | BACKGROUND: The pediatric diffuse intrinsic pontine glioma (DIPG) outcome
remains dismal despite multiple therapeutic attempts.
PURPOSE: To compare the results of treatment of pediatric diffuse intrinsic
pontine glioma (DIPG) using hypofractionated versus conventional radiotherapy.
PATIENTS AND METHODS: Seventy-one n... |
What is the function of the stard10 protein? | STARD10, a member of the steroidogenic acute regulatory protein (StAR)-related lipid transfer (START) protein family, is highly expressed in the liver and has been shown to transfer phosphatidylcholine. | We originally identified StarD10 as a protein overexpressed in breast cancer
that cooperates with the ErbB family of receptor tyrosine kinases in cellular
transformation. StarD10 contains a steroidogenic acute regulatory protein
(StAR/StarD1)-related lipid transfer (START) domain that is thought to mediate
binding ... |
Is progeria caused by an autosomal recessive gene? | Yes. Progeria is caused by an autosomal recessive gene. | We have studied a boy with progeria (Hutchinson Gilford) born to third cousins.
Four other individuals with progeria were born in another consanguineous sibship
in the same family. Thus, this disorder can be inherited as an autosomal
recessive trait. INTRODUCTION: Werner Syndrome, or adult progeria, is a rare autoso... |
What is the target of adalimumab? | adalimumab is an anti-tumour necrosis factor (tf)-α antibody. | The next generation of targeted biologic therapies for psoriasis will either be
directed against new protein targets or improve on the efficacy, safety, or
convenience of medications available for an already validated area in the immune
response. Adalimumab is a fully human monoclonal antibody directed against tumor... |
Which gene is implicated in the metabolism of codeine, and its polymorphisms in the mother can pose a risk to breastfeeding children? | Mothers with a CYP2D6 ultrarapid metabolizer phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding, by producing more of the active metabolite, morphine. | |
Describe the role of epidermal CYLD inactivation in sebaceous and basaloid skin tumors | Epidermal CYLD inactivation sensitizes mice to the development of sebaceous and basaloid skin tumors. Epidermal cyld inactivation also inhibits the growth of epidermal cell lines, leading to development of skin tumors in the early phase of the disease. | The deubiquitinase-encoding gene Cyld displays a domit genetic linkage to a
wide spectrum of skin-appendage tumors, which could be collectively designated
as CYLD mutant-syndrome (CYLDm-syndrome). Despite recent advances, little is
understood about the molecular mechanisms responsible for this painful and
difficult... |
Describe the mechanism of action of Lisocabtagene maraleucel. | Lisocabtagene maraleucel is an autologous, CD19-directed, chimeric antigen receptor (CAR) T-cell product. | Aggressive B-cell lymphomas that are primary refractory to, or relapse after,
frontline chemoimmunotherapy have a low cure rate with conventional therapies.
Although high-dose chemotherapy remains the standard of care at first relapse
for sufficiently young and fit patients, fewer than one-quarter of patients with
... |
What is the cause of the Kleefstra syndrome? | Mutations in the Euchromatic Histone Methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a rare form of intellectual disability (ID) with strong autistic traits and sensory processing deficits. | Kleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with
less than 110 patients reported till date. We report a 4-month-old Caucasian
girl with Kleefstra syndrome and Shone's complex, an association which has not
been previously reported. Surgical planning for patients with Kleefstra syndrome ... |
Is acupotomy used to treat muscle stiffness? | Yes. Acupotomy has been widely used to treat nerve entrapment syndrome. URL_0 | This study observed the local tissue homogenates in rabbits with third lumbar
vertebral transverse foramen syndrome and explored the mechanism of
acupotomylysis in local tissue revascularization. Thirty Japanese white rabbits
were randomly divided into the following 5 groups of 6 rabbits each: normal,
model, acupot... |
Which is the role of mediator in genome organization? | Mediator binds to boundaries of chromosomal interaction domains and to proteins involved in DNA looping, RNA metabolism, chromatin remodeling, and actin assembly. | Homologous recombination is crucial for genome stability and for genetic
exchange. Although our knowledge of the principle steps in recombination and its
machinery is well advanced, homology search, the critical step of exploring the
genome for homologous sequences to enable recombination, has remained mostly
enigm... |
Which two antibodies directed towards the CGRP ligand, were approved by the FDA in September 2018. | Two antibodies, fremanezumab and galcanezumab, directed towards the CGRP ligand, were approved by the FDA in September 2018. | Monoclonal antibodies against calcitonin gene-related peptide (CGRP) or its
receptor (CLR + RAMP1) offer considerable improvements over existing drugs in
migraine prophylaxis and are the first designed to act on the trigeminal pain
system. Erenumab is approved by the FDA and EMA and has reached the market since
May... |
Describe LowMACA | LowMACA (Low frequency Mutations Analysis via Consensus Alignment) is a method that combines the mutations of various proteins sharing the same functional domains to identify conserved residues that harbor clustered mutations in multiple sequence alignments. LowMACA is designed to visualize and statistically assess pot... | |
Is ofatumumab effective for multiple sclerosis? | Ofatumumab, a fully human anti-CD20 monoclonal antibody, is effective for relapsing forms of multiple sclerosis. | OBJECTIVES: We present the first study to explore safety and efficacy of the
human CD20 monoclonal antibody ofatumumab in relapsing-remitting multiple
sclerosis (RRMS).
METHODS: In this randomized, double-blind, placebo-controlled study, patients
received 2 ofatumumab infusions (100 mg, 300 mg, or 700 mg) or placebo... |
List proteins that promotes calcification. | tissue nonspecific alkaline phosphatase (TNAP)
matrix Gla protein (MGP)
fibroblast growth factor-23 (FGF-23)
matrix metalloproteinases | Patients undergoing long-term hemodialysis (HD) are known to have abnormal blood
concentrations of antioxidant minerals; concurrent oxidative stress can
contribute to increased vascular calcification. This study aims to evaluate the
associations between circulating antioxidant minerals and clinical biomarkers of
va... |
Please list 3 small molecule CGRP-Receptor antagonists for migraine | Rimegepant and ubrogepant have been developed for acute migraine treatment, while atogepant is studied for migraine prophylaxis. | BACKGROUND: Migraine is a debilitating headache disorder which affects
approximately 12% of the general population and is the cause of significant loss
of productivity (i.e., lost time from work or school) for those afflicted. The
current standard of care, the 5-HT(1B/1D) agonists known as triptans, is
contraindica... |
What are the two types of duplicated genes in the yeast S. cerevisiae? | Yeast genes are duplicated both via the whole genome duplication and via smaller scale duplications. The genome of the budding yeast contains 50% of protein-coding genes that are paralogs, including 457 pairs of duplicated genes coming probably from an ancient whole genome duplication. | Gene redundancy has been observed in yeast, plant and human genomes, and is
thought to be a consequence of whole-genome duplications. Baker's yeast,
Saccharomyces cerevisiae, contains several hundred duplicated genes.
Duplication(s) could have occurred before or after a given speciation. To
understand the evolution... |
Why is fingolimod considered a prodrug? | FTY720/fingolimod, is considered a prodrug because it requires in vivo phosphorylation to its active phosphorylated form. | Nonalcoholic fatty liver disease (NAFLD), a leading cause of liver dysfunction,
is a metabolic disease that begins with steatosis. Sphingolipid metabolites,
particularly ceramide and sphingosine-1-phosphate (S1P), have recently received
attention for their potential roles in insulin resistance and hepatic steatosis.... |
Is there a role for Dickkopf-1 (DKK1) in prostate cancer? | Yes. Dickkopf-1 (DKK1) expression is increased in double-negative prostate cancer (DNPC) relative to prostate-specific antigen (PSA)-expressing Metastatic castration-resistant prostate cancer (mCRPC). | In addition to new tumour antigens, new prognostic and diagnostic markers are
needed for common cancers. In this study, we report the expression of Dickkopf-1
(DKK1) in multiple common cancers. This constitutes a comprehensive analysis of
the DKK1 expression profile. Dickkopf-1 expression was evaluated by classical ... |
What is Hemophilic Pseudotumor? | Hemophilic Pseudotumor is a rare complication of hemophilia. It is an encapsulated haematoma in patients with haemophilia which has a tendency to progress and produce clinical symptoms related to its anatomical location. The lesion most frequently occurs in the long bones, pelvis, small bones of the hands and feet, o... | The iliac hemophilic pseudotumor is a rare complication of hemophilia occurring
in 1-2% of patients with Factor VIII or Factor IX deficiency. It is frequently
disabling and life threatening. This report presents a comparative study of
postoperative results of two cases of hemophilic pseudotumor of ilium. One
patien... |
What is the aim of the TRAP method? | The translating ribosome affinity purification (TRAP) method is used to obtain obtain translatome data. | Organs and specific cell types execute specialized functions in multicellular
organisms, in large part through customized gene expression signatures. Thus,
profiling the transcriptomes of specific cell and tissue types remains an
important tool for understanding how cells become specialized. Methodological
approach... |
The Shingrix vaccine is used to prevent what disease? | Shingrix is a 4-component vaccine against capsular herpes zoster (4CZV), which has recently been licensed in Europe, Canada and Australia. | Conflict of interest statement: Disclosure: The authors report no commercial or
ficial interest in regard to this article. BACKGROUND: The adjuvanted recombit zoster vaccine (Shingrix) can prevent
herpes zoster in older adults and autologous haemopoietic stem cell transplant
recipients. We evaluated the safety and i... |
What is the function of HP1a in the nucleus? | Heterochromatin protein 1 (HP1) is an abundant component of heterochromatin, a highly condensed compartment of the nucleus that comprises a major fraction of complex genomes. | Heterochromatin Protein 1 (HP1a) is a well-known conserved protein involved in
heterochromatin formation and gene silencing in different species including
humans. A general model has been proposed for heterochromatin formation and
epigenetic gene silencing in different species that implies an essential role
for HP1... |
Has AZD9668 been tested in clinical trials? | Yes, AZD9668 has been tested in clinical trials. | AZD9668 is a fully reversible, selective, oral inhibitor of neutrophil elastase,
a protease implicated in chronic obstructive pulmonary disease (COPD). Efficacy,
safety and tolerability of AZD9668 (5, 20 and 60 mg bid) were compared with
placebo in a randomised, double-blind, placebo-controlled, 12-week, Phase IIb
... |
Which class of genomic elements was assessed as part of the FANTOM6 project? | Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, the expression of 285 lncRNAs was systematically knocked down in human dermal fibroblasts. Cellular growth, morphological changes, and transcrip... | Author information:
(1)RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045,
Japan.
(2)RIKEN Center for Life Science Technologies, Yokohama, Kanagawa 230-0045,
Japan.
(3)Laboratorio Nazionale Consorzio Interuniversitario Biotecnologie (CIB),
Trieste 34127, Italy.
(4)Engelhardt Institute of Mole... |
Which molecule is targeted by Camrelizumab? | Camrelizumab is a humanised antibody that targets programmed death-1 (PD-1) ligand. | BACKGROUND: Platinum-based doublet chemotherapy regimens, preferentially
gemcitabine plus cisplatin, are generally considered the first-line standard of
care for patients with recurrent or metastatic nasopharyngeal carcinoma.
However, no consensus has been reached regarding treatment following progression
after fir... |
What is a foam cell? | Foam cell, a hallmark of atherosclerosis, is prominently derived from monocyte-differentiated macrophage, and vascular smooth muscle cells (VSMCs) through unlimitedly phagocytizing oxidized low-density lipoprotein (oxLDL). Therefore, the inhibition of monocyte adhesion to endothelium and uptake of oxLDL might be a brea... | BACKGROUND: Atherosclerosis (AS) is a chronic inflammatory disease that
contributes to multiple cardiovascular diseases (CVDs), and foam cell formation
plays important roles in the progression of AS. There is an urgent need to
identify new molecular targets for treating AS, and thereby improve the quality
of life a... |
What class of drugs frequently has muscle pain and other muscle toxicities such as mysositis and rhabdomyolysis as a side effect? | Muscular complaints are known side-effects of statin therapy, ranging from myalgia to clinically important myositis and rhabdomyolysis. | Drug-induced myopathy and rhabdomyolysis are rare adverse drug reactions (ADR).
They have been seen after the introduction of modern lipid-lowering drugs more
regularly. The first description after medication with clofibrate dates back to
1968. Apparently, all fibrates can induce myopathy. It usually starts after a ... |
Which cytokine molecule activates SMADs? | SMADs are activated by Transforming growth factor beta (TGF beta) | Interleukin-6 (IL-6) is a pro-inflammatory cytokine that plays an important role
in the pathogenesis of inflammatory bowel disease. TGF-beta, a multifunctional
cytokine, is a potent negative regulator of mucosal inflammation in the
intestine. The aim of the present study is to determine possible cross-talk
between ... |
What is the Oncomine Dx Target test? | The Oncomine Dx Target Test (ODxTT) is a next-generation sequencing-based companion diagnostic test, that could facilitate access to multiple biomarker testing using small tissue samples to support therapy decisions for patients with advanced NSCLC. | BACKGROUND: The Oncomine Dx Target Test (ODxTT) is a next-generation
sequencing-based companion diagnostic test which has been recently developed;
however, its analysis success rate could be improved, especially for small
samples. The aim of this study was to identify the pathological factors
associated with biopsy... |
What are common variants at 12q14 and 12q24 associated with? | Common variants at 12q14 and 12q24 are associated with hippocampal volume. Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. | Collaborators: Stein JL, Medland SE, Arias Vasquez A, Hibar DP, Senstad RE,
Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon
DM, Chakravarty M, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ,
Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim S, Laje G,
... |
Which mutation is targeted by Sotorasib? | Sotorasib is a small molecule that selectively and irreversibly targets KRASG12C. | Author information:
(1)From the Department of Investigational Cancer Therapeutics, Phase I Clinical
Trials Program, University of Texas M.D. Anderson Cancer Center, Houston
(D.S.H., F.M.-B.); the Department of Medical Oncology and Experimental
Therapeutics, City of Hope Comprehensive Cancer Center, Duarte (M.G.F.), ... |
When is DELE1 exiting the mitochondrion? | Mitochondrial stress stimulates OMA1-dependent cleavage of DELE1 and leads to the accumulation of DELE1 in the cytosol. | Mitochondrial fidelity is tightly linked to overall cellular homeostasis and is
compromised in ageing and various pathologies1-3. Mitochondrial malfunction
needs to be relayed to the cytosol, where an integrated stress response is
triggered by the phosphorylation of eukaryotic translation initiation factor 2α
(eIF2... |
What is a ciliopathy? | A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function | The "ciliopathies" are a newly defined group of disorders characterized by
defects in the structure or function of the cellular primary cilium. Patients
with these disorders display variably expressive fibrocystic renal disease,
retinal blindness, polydactyly, obesity, and brain dysgenesis as well as
neurocognitive... |
Which histone mark is recognized by HP1? | h3k9me3 is the major histone mark that is recognized by hp1. | The chromodomain of the HP1 family of proteins recognizes histone tails with
specifically methylated lysines. Here, we present structural, energetic, and
mutational analyses of the complex between the Drosophila HP1 chromodomain and
the histone H3 tail with a methyllysine at residue 9, a modification associated
wit... |
What is AZD8601? | AZD8601 is a modified mRNA encoding vascular endothelial growth factor A (VEGF-A). Sequential dosing of AZD8601 improves vascularization and tissue oxygenation of the wound bed, leading to accelerated re-epithelialization during the early phase of diabetic wound healing. | |
List critical regions for 7p22.1 microduplication syndrome | 7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphism and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. | 7p22.1 microduplication syndrome is mainly characterized by developmental and
speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal
critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a
girl carrying the smallest 7p22.1 microduplication detected to date,
contributi... |
Which molecules are targeted by Trastuzumab Deruxtecan? | Trastuzumab deruxtecan is a HER2-directed antibody and DNA topoisomerase I inhibitor conjugate being developed for the treatment of HER2-expressing solid tumours, including breast cancer, gastric cancer, colorectal cancer and non-small cell lung cancer | BACKGROUND: Antibody-drug conjugates have emerged as a powerful strategy in
cancer therapy and combine the ability of monoclonal antibodies to specifically
target tumour cells with the highly potent killing activity of drugs with
payloads too toxic for systemic administration. Trastuzumab deruxtecan (also
known as ... |
What is the function of the HSJ1 proteins? | HSJ1 is a neuronal enriched member of the HSP40/DNAJ co-chaperone family. | |
What is the indication for zolmitriptan? | Development of a novel zolmitriptan intracutaneous microneedle system (Qtrypta™) for the acute treatment of migraine | 311C90 (Zomig; zolmitriptan) is a novel, selective serotonin (5HT)1B/1D receptor
agonist with both central and peripheral activity, now in late-stage clinical
development for acute oral treatment of migraine. Several studies have
demonstrated the tolerability and efficacy of 311C90 in the treatment of a
single migr... |
What percentage of C. elegans genes reside in operons? | Nearly 15% of the ~20,000 C. elegans genes are contained in operons, multigene clusters controlled by a single promoter. Our evidence indicates that the genome contains at least 1,000 operons, 2 8 genes long, that contain about 15% of all C. elegans genes. | The nematode worm Caenorhabditis elegans and its relatives are unique among
animals in having operons. Operons are regulated multigene transcription units,
in which polycistronic pre-messenger RNA (pre-mRNA coding for multiple peptides)
is processed to monocistronic mRNAs. This occurs by 3' end formation and
trans-... |
What is the most advanced phase of clinical trial that fingolimod has entered? | Fingolimod has been assessed in phase IV clinical trials. | INTRODUCTION: The mechanism of action of fingolimod within the central nervous
system and its efficacy in reducing/preventing both focal and diffuse grey
matter (GM) damage in active multiple sclerosis (MS) are not completely
understood.
METHODS: In this longitudinal, 2-year prospective, phase IV, single-blind study... |
What is caused by a gain-of-function mutation in CLCN2? | A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism, which is the most common and curable form of arterial hypertension. | Author information:
(1)Department of Nephrology, Medical School, Heinrich Heine University
Düsseldorf, Düsseldorf, Germany. ute.scholl@charite.de.
(2)Department of Nephrology and Medical Intensive Care,
Charité-Universitätsmedizin Berlin, Berlin Institute of Health, Berlin, Germany.
ute.scholl@charite.de.
(3)Institu... |
Which treatments were compared in the UNBLOCS trial? | The UNBLOCS trial compared thulium laser transurethral vaporesection of the prostate versus transurethral resection of the prostate for men with lower urinary tract symptoms or urinary retention. | OBJECTIVE: To determine the cost-effectiveness of the current 'gold standard'
operation of transurethral resection of the prostate (TURP) compared to the new
laser technique of thulium laser transurethral vaporesection of the prostate
(ThuVARP) in men with benign prostatic obstruction (BPO) within the UK National
H... |
Which are the ligands of the Roundabout (Robo) receptors? | Roundabouts comprise a family of single-pass transmembrane receptors facilitating this process upon interaction with the soluble extracellular ligand Slit protein family emanating from the midline. | The signaling pathways that are mediated by Slit ligands and their Roundabout
(Robo) family of receptors play multifunctional roles in the development of the
nervous system and other organs. A recent study identified neural epidermal
growth factor-like (NEL)-like 2 (NELL2) as a novel ligand for Robo3. In this
study... |
What is the function of kisspeptin in the brain? | Kisspeptin is a neuropeptide that plays an integral role in the regulation of energy intake and reproduction by acting centrally on the hypothalamus-pituitary-gonadal axis. It is the most potent factor known to induce GnRH release. Kisspeptin preserves mitochondrial function by inducing mitophagy and autophagy in aging... | Kisspeptin (also known as metastin), a hypothalamic peptide, has attracted
attention as a key molecule in the release of gonadotrophin-releasing hormone
(GnRH) in various mammalian species, such as rodents, sheep and primates. Two
populations of kisspeptin neurones in the brain may control two modes of GnRH
release... |
Is Nanog repressed in pluripotent stem cells? | The homeobox gene Nanog is a key intrinsic determinant of self renewal in embryonic stem (ES) cells, and its repression leads ES cells to selectively differentiate into primitive endoderm. | When embryonic stem cells are allowed to aggregate, the outer layer of the
aggregated spheres (referred to as embryoid bodies) differentiates into
primitive endoderm. This initial specification of cell lineage facilitates
further differentiation of the inner mass of the embryoid bodies. These
processes are consider... |
What is the mode of administration of Ubrogepant? | Ubrogepant (MK-1602) is administered orally. | Merck & Co., Inc. (Kenilworth, New Jersey) has recently published an integrated
strategy for implementation of dried blood spots (DBS) in late-stage trials for
population pharmacokinetic (PK) modeling. We applied this strategy for another
late-stage clinical program: ubrogepant (MK-1602), a novel oral calcitonin
ge... |
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