research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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960-990 / 1000+ results research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits
Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
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 Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter
The KRTAP15-1 gene affects cashmere fiber thickness in goats.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research Identification of the KAP27-1 gene in sheep and its effect on wool traits
The KRTAP27-1 gene variations in sheep may affect wool length and weight.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research Integrative Comparison of the Role of the PHOSPHATE RESPONSE1 Subfamily in Phosphate Signaling and Homeostasis in Rice
OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research BPS2026 – TMC1 and TMC2 are cholesterol-dependent scramblases that regulate membrane homeostasis in auditory hair cells
research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research TRIM9 regulates the proliferation and apoptosis of dermal papilla cells by activating the Wnt/β-catenin signaling pathway to improve androgenetic alopecia
research Comprehensive transcriptome data to identify downstream genes of testosterone signalling in dermal papilla cells
The research identified genes and non-coding RNAs in cells that could be affected by testosterone, which may help understand hair loss and prostate cancer.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research ROOT HAIR DEFECTIVE SIX‐LIKE4 (RSL4) promotes root hair elongation by transcriptionally regulating the expression of genes required for cell growth
The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research Novel KRT83 and KRT86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.