research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
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210-240 / 1000+ resultsresearch 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 Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Mitochondrial-related genes as prognostic and metastatic markers in breast cancer: insights from comprehensive analysis and clinical models
Mitochondrial genes help predict breast cancer outcomes and spread.
research Polymorphism in the A2M gene associated with high-quality milk in Murrah buffaloes (Bubalus bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Validation and casework testing of the BioPlex-11 for STR typing of telogen hair roots
BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
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 A Unique Type I Keratin Intermediate Filament Gene Family is Abundantly Expressed in the Inner Root Sheaths of Sheep and Human Hair Follicles
research Identification of Familial Infections Using Multilocus Microsatellite Typing in Tinea Corporis due to Microsporum canis
A mother and her two daughters got a skin infection from their cat.
research Evolutionary Divergence of Fibroblast Growth Factors Across Species: Insight into Functional Diversification
FGFs have evolved differently across species, affecting skin functions and wound healing.
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Evolutionary Divergence of Fibroblast Growth Factors Across Species: Insight into Functional Diversification
FGFs have evolved differently across species, affecting skin and wound healing.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research The molecular basis of human keratin disorders
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Transcriptome-based selection and validation of optimal house-keeping genes for skin research in goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for accurate goat skin research.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.