research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
Search
for
Sort by
Research
720-750 / 1000+ resultsresearch 447 Skin-Associated Cartilage Consists of Lipid-Filled Cells That Modify Hair Growth via BMP and WNT Signaling
Skin-associated cartilage cells can influence hair growth by altering specific signaling pathways.
research Decision letter: Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen may help prevent skin aging.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Protective Effects of BCC Against Oxidative Stress in Cardiomyocyte Cells
BCC can protect heart cells from damage caused by oxidative stress.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research The Circular RNA CircCOL1A1 Functions as a miR-149-5p Sponge to Regulate the Formation of Superior-Quality Brush Hair via the CMTM3/AR Axis
A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Patterns of epithelial expression of Fos protein suggest important role in the transition from viable to cornified cell during keratinization
Fos protein is crucial for cell transition to cornification in keratinized tissues.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research The RAIG Family Member, GPRC5D, Is Associated with Hard-Keratinized Structures
GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Cinnamomi Cortex (Cinnamomum verum) Suppresses Testosterone-induced Benign Prostatic Hyperplasia by Regulating 5α-reductase
Cinnamomi cortex may help treat prostate enlargement by reducing related proteins.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research 5α-Reductase, an enzyme regulating glucocorticoid action in the testis of Rhinella arenarum (Amphibia: Anura)
5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research LGR5 is a Conserved Marker of Hair Follicle Stem Cells Across Species and is Present Early and Throughout Follicle Morphogenesis
LGR5 is a marker found in hair follicle stem cells in various species and is important for hair growth and skin repair.
research Transcriptome sequencing reveals the expression profiles of lncRNAs and mRNAs in goat skin tissues with different types of wool coats
Different wool coat types in goats are linked to specific gene expressions, which could improve cashmere quality.
research The Suppression of Very Long Chain Fatty Acids Is Associated with Skin Carcinogenesis
Suppressing very long chain fatty acids is linked to skin cancer.
research Dynamic Wnt5a expression in murine hair follicle cycle and its inhibitory effects on follicular
Wnt5a may slow down hair growth in mice.
research Genetic Upregulation of Activated Protein C Mitigates Delayed Effects of Acute Radiation Exposure in the Mouse Plasma
Activated protein C helps protect mice from long-term radiation damage.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Mechanisms of Submucosal Gland Morphogenesis in the Airway
LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Stereocontrolled synthesis of all eight stereoisomers of the putative anti-androgen cyoctol
Scientists made all eight versions of a compound called cyoctol, but found it's not an anti-androgen and it fully breaks down in the skin.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.