research Effects of different concentrations of androgens on KAP24.1 gene expression in Hetian sheep and Karakul sheep
Different androgen concentrations affect wool-related gene expression differently in Hetian and Karakul sheep breeds.
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research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Assessment of the impact of VDR polymorphisms on selected hormonal, metabolic and mineral balance markers in young women with hyperandrogenism
VDR gene variations may affect carbohydrate metabolism in young women with hyperandrogenism.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research The Human Papillomavirus Type 11 Upstream Regulatory Region Triggers Hair-Follicle-Specific Gene Expression in Transgenic Mice
The HPV type 11 region activates hair-specific gene expression in mice.
research Androgen Receptor Polymorphisms (CAG Repeat Lengths) in Androgenetic Alopecia, Hirsutism, and Acne
Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.
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 Study on kerantin association protein 8.1 gene expression of Liaoning cashere goats in skin and hair follicle
Higher expression of the keratin-associated protein 8.1 gene in Liaoning cashmere goats is linked to finer cashmere fibers.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
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 Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review
Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
research Generation of Cashmere Goats Carrying an EDAR Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Pangenome and genome variation analyses of pigs unveil genomic facets for their adaptation and agronomic characteristics
Pangenome analysis reveals key genes for pig adaptation and traits, aiding genetic improvement.
research Expression analysis of KAP9.2 and Hoxc13 genes during different cashmere growth stages by qRT-PCR method
KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Whiskers amiss, a new vibrissae and hair mutation near the Krt1 cluster on mouse Chromosome 11
A new mutation in mice causes crooked whiskers and messy hair.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
research No Evidence that 2D:4D is Related to the Number of CAG Repeats in the Androgen Receptor Gene
Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
research Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
Different long non-coding RNAs in yaks change during hair growth cycles and are involved in key growth pathways.
research Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.