research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
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300-330 / 1000+ resultsresearch Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research 570 DNA dioxygenases Tet1/2/3 control cell differentiation in the hair follicle keratinocytes via modulating the activity of BMP signaling pathway
Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research The KRAB domain zinc finger protein, Zfp157 , is expressed in multiple tissues during mouse embryogenesis and in specific cells in adult mammary gland and skin
Zfp157 is active in many mouse tissues during development and in specific adult cells.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Sequence and expression of human hair keratin genes
Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research Embryonic development of hair follicle pluripotent stem (hfPS) cells
research Modulation of sonic hedgehog, patched and patched-2 expression by epidermal growth factor signaling in mouse hair follicle formation
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Author response: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Expression and localization of Sox10 during hair follicle morphogenesis and induced hair cycle
Sox10 is important for hair follicle development and hair growth cycles.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Hedgehog signalling in skin development and cancer
The hedgehog signalling pathway is key in skin development and basal cell carcinoma, offering insights for prevention and treatment.