research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
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450-480 / 1000+ results research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Dual role of laminin‑511 in regulating melanocyte migration and differentiation
Laminin-511 is essential for proper melanocyte movement and development in mice.
research Syntaxin 9 is Enriched in Skin Hair Follicle Epithelium and Interacts With the Epidermal Growth Factor Receptor
Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
research KRT72 wt Allele
KRT72 gene helps form hair.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Genome-Wide Associations with Body and Fleece Weight in United States Sheep
Certain genetic markers can help predict wool production in U.S. sheep.
research A new type of pachyonychia congenita.
A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
research Supplementary figure S2
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 Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research 117 Supplementation with soy hull during late gestation and lactation on parasite indicators in hair sheep ewes
Soy hull supplementation did not affect sheep gastrointestinal parasite infection compared to corn-based supplements.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research P.1.g.019 RY-023, an inverse agonist at alpha5 GABAA receptors: the influence on spatial memory and spontaneous locomotor activity
RY-023, a specific drug, can improve early stage memory learning without affecting general activity in rats, but it's less effective for later learning stages and doesn't impact memory recall.
research KY19382 Accelerates Cutaneous Wound Healing via Activation of the Wnt/β-Catenin Signaling Pathway
KY19382 speeds up wound healing by activating a specific cell signaling pathway.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
The EDAR V370A allele in East Asians likely evolved due to reliance on aquatic resources providing essential nutrients.