research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
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210-240 / 1000+ resultsresearch Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
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 Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Sex dependent influence of a functional polymorphism in steroid 5‐α‐reductase type 2 (SRD5A2) on post‐traumatic stress symptoms
SRD5A2 gene variations affect PTSD symptoms differently in males and females.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Different Requirements for GFRα2-Signaling in Three Populations of Cutaneous Sensory Neurons
GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12
The MTR gene affects wool quality and production in Chinese Merino sheep.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
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 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype
A genetic change in the FGF5 gene affects hair growth in cashmere goats.
research Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
research Characterization of BMP2 gene expression in embryonic and adult Inner Mongolia Cashmere goat (Capra hircus) hair follicles
The BMP2 gene is more active in the early growth phase of Cashmere goat hair and may affect hair regeneration and textile production.
research Peroxisome Proliferator Activated Receptors Gamma Serum levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case Control Study
Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.