research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
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research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Modulating mechanosensory afferent excitability by an atypical mG luR
A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research CD80CD86 deficiency disrupts regulatory CD4+FoxP3+T cell homoeostasis and induces autoimmune-like alopecia
CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research LGR5 is a Marker of Poor Prognosis in Glioblastoma and is Required for Survival of Brain Cancer Stem‐Like Cells
High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
research S100A6 Protein—Expression and Function in Norm and Pathology
S100A6 protein is linked to disease progression, especially in cancers.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research GSK-3 Inhibitors: Recent Developments and Therapeutic Potential
Drugs that block GSK-3 show promise for treating various diseases.
research The Two Functional Keratin 6 Genes of Mouse Are Differentially Regulated and Evolved Independently from Their Human Orthologs
Mouse keratin 6 genes evolved independently from human ones and are regulated differently.
research The peach RGF/GLV signalling peptide pCTG134 is involved in a regulatory circuit that sustains auxin and ethylene actions
The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
research MEX3A regulates Lgr5 + stem cell maintenance in the developing intestinal epithelium
MEX3A is crucial for maintaining intestinal stem cells in mice.
research Glibenclamide reverses cromakalim-induced anti-ischemic effect in conscious rabbits
research Serum Level of Galectin -3 and Its Relation to Insulin Resistance in Patients with Androgenetic Alopecia
Higher Galectin-3 levels are linked to insulin resistance and may predict androgenetic alopecia severity.
research Characterisation of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research 031 Inducible skin-associated lymphoid tissue (iSALT) is detected in the scalp treated with topical immunotherapy for alopecia areata
Topical immunotherapy for alopecia areata may work by creating immune cell clusters in the skin.
research ISID1394 - Long non-coding RNA AL136131.3 inhibits hair growth through mediating glycolysis in androgenetic alopecia
The RNA AL136131.3 slows down hair growth and speeds up hair loss by affecting sugar breakdown in hair follicles.
research Molecular mechanism of ligand recognition and activation of lysophosphatidic acid receptor LPAR6
LPAR6 has a unique way of binding and activating, which helps in designing treatments for hair loss and cancer.
research Single Anastomosis Gastro Ileal Bypass with Pyloric and Gastric Plication (SAGI PGP): A New Innovative Bariatric Operation
The new bariatric surgery SAGI PGP is effective for weight loss and diabetes control with few complications.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Social isolation‐induced increase in α4and δ subunit gene expression is associated with a greater efficacy of ethanol on steroidogenesis and GABAAreceptor function
Social isolation makes rats more sensitive to alcohol's effects on the brain.
research Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery
Wool color in Gangba sheep is influenced by multiple genes and genetic mechanisms.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.