research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
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research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research A Study of Combined Genotype Effects of SHCBP1 on Wool Quality Traits in Chinese Merino
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 Androgen receptor gene polymorphism and polycystic ovary syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Ethanol Patch Test—A Simple and Sensitive Method for Identifying ALDH Phenotype
The ethanol patch test reliably identifies ALDH phenotype.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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 The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Identification and expression of the target gene SLC24A2 of oar-miR-377 and its novel SNPs effects on wool traits in sheep
The TT genotype of a specific SNP in sheep is linked to better wool quality.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
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 Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Association between epidermal growth factor and epidermal growth factor receptor gene polymorphisms and susceptibility to alopecia areata in Korean population
Certain gene variations might increase the risk of a hair loss condition in Koreans.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors
Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
research Utilising SNP Association Analysis as a Prospective Approach for Personalising Androgenetic Alopecia Treatment
Genetic factors could lead to personalized treatments for hair loss.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
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 Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
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.