research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
Search
for
Sort by
Research
840-870 / 1000+ results research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.
research Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles
SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research ULBP3: a marker for alopecia areata incognita
ULBP3 could be a marker for diagnosing alopecia areata incognita and may be linked to its cause and development.
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 Revised NPRT Classification System Encompasses Additional Patterns of Male and Female Hair Loss
The updated NPRT system now covers different types of hair loss in men and women.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research 516 Functional annotation of genes underlying hair disorders
The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research CAG polymorphism in the androgen receptor gene in women may be associated with nodulocystic acne
Certain gene variations might be linked to severe acne in women but not in men.
research Human Hair Keratin-Associated Proteins
Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.
research The Effects of Induced Polycystic Ovary Syndrome in NAG-1 Transgenic Mice
NAG-1 may help prevent some metabolic issues related to PCOS.
research Discrimination of Dysplastic Nevi from Common Melanocytic Nevi by Cellular and Molecular Criteria
Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
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 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
research 078 The transmembrane protein LRIG1 regulates receptor tyrosine kinases in skin development and homeostasis
LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
research Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population
The rs1128977 gene variant may affect cholesterol and body measurements.
research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE
The ABI1 gene contributes to prostate cancer progression and treatment resistance.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients
Longer CAG repeats in gene linked to more severe hair loss in females.
research 1336 The de novo DNA methyltransferase DNMT3A is required for epidermal homeostasis
DNMT3A is crucial for healthy skin and hair growth.