research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
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630-660 / 1000+ resultsresearch Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
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 Resequencing Analyses Revealed Genetic Diversity and Selection Signatures during Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Faculty Opinions recommendation of Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
research An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns
A gene called Taqpep affects cat coat patterns like stripes and blotches.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Evolution in action: highlighting a role for the Agouti gene in development?
The Agouti gene influences pigmentation and may have a developmental role in deer mice.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Polymorphisms and association of FAT1 gene with wool quality traits in Chinese Merino sheep
The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
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 Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients
CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
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 homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.