research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
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30-60 / 1000+ resultsresearch The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
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 novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
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 The accelerated aging skin in rhino‐like SHJHhr mice
The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.