research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
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research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research 51223 A novel human disease model of alopecia areata to evaluate benefit of the DHODH inhibitor farudodstat
Farudodstat may effectively treat alopecia areata without harmful side effects.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
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 Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research Molecular changes in skin predict predisposition to breast cancer
Skin changes can indicate a risk for breast cancer.
research P6590Androgenic effects on ventricular repolarization: a translational study from pharmacovigilance databases to iPSC-cardiomyocytes
Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research Skin precancer.
Sun exposure and genetics increase skin cancer risk from precancerous lesions.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Overexpression of hepatoma-derived growth factor in melanocytes does not lead to oncogenic transformation
Overexpression of HDGF in melanocytes does not cause cancer.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Sodium Metabisulfite: Effects on Ionic Currents and Excitotoxicity
Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research SAHA syndrome: female androgenetic alopecia and hirsutism.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.