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.
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900-930 / 1000+ resultsresearch SF-066-4 線維芽細胞+血管内皮前駆細胞共培養シートを用いた新たな膵断端処理法の開発(膵-2,サージカルフォーラム,第110回日本外科学会定期学術集会)
Metabolic processes and key genes like FGF5, FGFR1, and RRAS significantly affect hair follicle growth in Inner Mongolian Cashmere goats.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Glioblastoma cells express crucial enzymes involved in androgen synthesis: 3β‐hydroxysteroid dehydrogenase, 17‐20α‐hydroxylase, 17β‐hydroxysteroid dehydrogenase and 5α‐reductase
Glioblastoma cells can make androgens, which might help the tumor grow.
research ARHGEF3 Regulates Hair Follicle Morphogenesis
ARHGEF3 is essential for proper hair follicle development.
research 671 The adenosine-generating ecto-enzyme, CD73, functions as an intrafollicular regulator of human hair growth
CD73 may regulate hair growth and could be targeted for hair growth treatments.
research HDAC1-Overexpressing Dermal Papilla Cell-Derived Extracellular Vesicles Modulate p53 and Wnt/β-Catenin Signaling to Rescue Hair Follicle Regeneration in Androgenetic Alopecia
research Small molecules facilitate single factor-mediated sweat gland cell reprogramming
Small molecules can help turn skin cells into sweat gland-like cells for potential skin repair.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research Trichohyalin, an intermediate filament-associated protein of the hair follicle.
Trichohyalin is a protein in hair follicles that helps form hair filaments.
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 Ethanol-induced GABAA receptor alpha4 subunit plasticity involves phosphorylation and neuroactive steroids
Chronic ethanol increases certain brain receptor levels, influenced by steroids and protein changes.
research Localization, Age- and Site-Dependent Expression, and Regulation of 11β-Hydroxysteroid Dehydrogenase Type 1 in Skin
Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Central centrifugal cicatricial alopecia in Black men: A case series highlighting key clinical features in this cohort
The document concludes that early and accurate diagnosis of hair loss on the top of the scalp in Black men is important to distinguish CCCA from other types of hair loss.
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
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 Activation of temperature-sensitive Ca2+-permeable TRPV3 channels by natural ï¡-hydroxyl acids causes exfoliation for skin-resurfacing
Natural α-hydroxyl acids cause skin exfoliation by activating TRPV3 channels.
research Production of a 135-residue long N-truncated human keratinocyte growth factor 1 in Escherichia coli
KGF-1 135 is a stable and effective alternative for treating oral mucositis.
research The complement of native α-keratin polypeptides of hair-forming cells: A subset of eight polypeptides that differ from epithelial cytokeratins
research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle.
Two specific genes are more active during hair growth in mice.
research Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
research Hypoxia inducible factor-1a promotes trichogenic gene expression in human dermal papilla cells
A protein called HIF-1a helps control hair growth genes and could be targeted to treat hair loss.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.