research Differential Expression of MITF, WNT3A, SLC7A11, and EDN3 in the Shoulder ‘Bider Marking’ of Dun Mongolian Horses
MITF and WNT3A are key in Dun Mongolian horse pigmentation.
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240-270 / 1000+ results research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice
Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
research 664 Understanding the pathogenesis of seborrhea-like dermatitis in the Mpzl3 knockout mice
ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
research Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings
TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Mrp3, a Mitogen-Regulated Protein/Proliferin Gene Expressed in Wound Healing and in Hair Follicles
Mrp3 may aid in wound healing and hair growth.
research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
A new gene, JMJD1C, may affect testosterone levels in men.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research The Auxin-Regulated CrRLK1L Kinase ERULUS Controls Cell Wall Composition during Root Hair Tip Growth
ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
research 1422 Uncoupling desmosomal cadherin adhesion activates quiescent hair follicle stem cells and orchestrates self-organized regeneration through outside-in signaling
Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Correlation and regression analysis of the KRT27 and ELOVL4 genes in cashmere fineness and other production performances in Liaoning cashmere goats
Certain gene combinations improve cashmere quality and production in Liaoning goats.
research KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Decision letter: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
research Faculty Opinions recommendation of Lrig1 expression defines a distinct multipotent stem cell population in mammalian epidermis.
Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Meis1 Regulates Epidermal Stem Cells and Is Required for Skin Tumorigenesis
Meis1 is crucial for skin health and tumor development.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Sdr16c5 and Sdr16c6 control a dormant pathway at a bifurcation point between meibogenesis and sebogenesis
Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Deletion of the epidermis derived laminin γ1 chain leads to defects in the regulation of late hair morphogenesis
Deleting a specific protein in skin cells disrupts normal hair growth and development.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
The SOSTDC1 gene is crucial for determining sheep wool type.