research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
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210-240 / 1000+ results research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research Novel Insights into TSC22D Family Genes in Metabolic Diseases and Cancer
TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
TRPS1 is crucial for bone, kidney, and hair follicle development.
research Morphological and functional analysis on M3R mediated sweating in TSC1 k/o mouse
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
research Bone morphogenetic proteins 4 and 2/7 induce osteogenic differentiation of mouse skin derived fibroblast and dermal papilla cells
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Mitochondrial-related genes as prognostic and metastatic markers in breast cancer: insights from comprehensive analysis and clinical models
Mitochondrial genes help predict breast cancer outcomes and spread.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice
A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research Induction of ornithine decarboxylase in specific subpopulations of murine epidermal cells following multiple exposures to 12-O-tetradecanoylphorbol-13-acetate, mezerein and ethyl phenylpropriolate
TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research Author response: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Gene expression patterns during palatal shelf fusion
Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.