research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
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420-450 / 1000+ resultsresearch 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
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 BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research In vivo skin leptin modulation after 14 MeV neutron irradiation: a molecular and FT-IR spectroscopic study
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
research RNase L represses hair follicle regeneration through altered innate immune signaling
RNase L hinders hair follicle regeneration by altering immune signals.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Molecular basis of androgen receptor diseases
Mutations in the androgen receptor gene cause various disorders.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
A new mutation in mice causes crooked whiskers and messy hair.
research Abstract 1219: Defective catagen entry in EGFR deficient skin precedes cutaneous inflammation
EGFR deficiency in skin causes hair follicle issues and inflammation.
research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA
Gene variation affects prostate issues and hair loss.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
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 A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Siberian cats help in solving part of the mystery surrounding golden cats
The CORIN gene variant causes the golden color in Siberian cats.
research Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
The keratin tail is crucial for skin structure and function.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS
The genetic variant studied does not affect PCOS symptoms in Kashmiri women.