research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
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research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research Role of Csdc2 in Regulating Secondary Hair Follicle Growth in Cashmere Goats
Csdc2 helps hair growth in cashmere goats by regulating specific genes.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research Establishment and Characterization of Immortalized Human Dermal Papilla Cells Expressing Human Papillomavirus 16 E6/E7
Immortalized human dermal papilla cells were created that grow better and can still help form hair.
research Variation in the ovine trichohyalin gene and its association with wool curvature
Variation in the TCHH gene affects wool curliness in sheep.
research Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene ID2, by contact sensitizers in human bulge‐derived keratinocytes
The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Transgenic mice display hair loss and regrowth overexpressing mutant Hr gene
Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research The Tumor Suppressor Actions of the Vitamin D Receptor in Skin
Vitamin D receptor helps prevent skin tumors.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle
The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.