research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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540-570 / 1000+ results research An Ultra-high Sulfur Keratin Gene is Expressed Specifically During Hair Growth
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research Subcellular localization of the five members of the human steroid 5α-reductase family
All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
research Association of Cyp11a Gene with Polycystic Ovarian Syndrome Patients in Lahore, Pakistan
The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Transcriptional profiling of putative human epithelial stem cells
Alpha 6 + /MHCI - cells have stem cell traits and are similar to mouse hair follicle stem cells.
research Emerging roles of Sox6 in the renal and cardiovascular system
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population
Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research PSXIV-17 Examining Mammary Gland Transcriptomic Profiles Using Rna-Seq in Slick and Wild-Type Haired Holstein Cattle Under Tropical Conditions
SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
research Compartmentalized Epidermal Activation of β-Catenin Differentially Affects Lineage Reprogramming and Underlies Tumor Heterogeneity
Activating β-catenin in different skin stem cells causes various types of hair growth and skin tumors.
research Genetic regulation of the androgen receptor—A study of testicular feminization in the mouse
The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
research Differential distribution and genetic determination of eccrine sweat glands and hair follicles in the volar skin of C57BL/6 mice and SD rats
C57BL/6 mice and SD rats have different sweat gland and hair follicle patterns, useful for skin research.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research K6/ODC transgenic mice as a sensitive model for carcinogen identification
K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target
TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
research The Two Functional Keratin 6 Genes of Mouse Are Differentially Regulated and Evolved Independently from Their Human Orthologs
Mouse keratin 6 genes evolved independently from human ones and are regulated differently.
research An out-of-lab trial: a case example for the effect of intensive exercise on rhythms of human clock gene expression
Intense exercise at night can delay the body's internal clock gene expression by 2 to 4 hours.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Retinoid-mediated stimulation of steroid sulfatase activity in myeloid leukemic cell lines requires RARα and RXR and involves the phosphoinositide 3-kinase and ERK-MAP kinase pathways
Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
research Secreted Carbonic Anhydrase Isoenzyme VI
CA VI helps maintain pH balance and is important for various bodily functions.
research Integrative study of gene expression and protein complexes
Cell processes depend on time-of-day and protein complex flexibility for skin health.
research Deletion of the Sox21 gene drastically affects hair lipids
Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
research 560 Isolation of an “early” transit amplifying keratinocyte population in interfollicular human epidermis: a role for CD271 receptor
Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.