research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
Search
for
Sort by
Research
630-660 / 1000+ results
research Hox in the Niche Controls Hairy-geneity
Hox genes control hair growth patterns in mammals by regulating stem cell activity in the skin.
research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research New insights into the functions of Cox-2 in skin and esophageal malignancies
Cox-2 significantly contributes to the development and progression of skin and esophageal cancers.
research Knockdown of FOXA2 Impairs Hair-Inductive Activity of Cultured Human Follicular Keratinocytes
Reducing FOXA2 in skin cells lowers their ability to grow hair.
research Genetic interplays between Msx2 and Foxn1 are required for Notch1 expression and hair shaft differentiation
Msx2 and Foxn1 are both crucial for hair growth and health.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Syndecan-1 Is Required to Maintain Intradermal Fat and Prevent Cold Stress
Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
research 1392 Activation of Id2 gene regulatory network ruling quiescence of hair follicle stem cells
Id2 gene helps keep hair follicle stem cells inactive.
research Activation of the OVOL1-OVOL2 Axis in the Hair Bulb and in Pilomatricoma
The genes OVOL1 and OVOL2 are important for hair growth and may be involved in a type of skin tumor.
research 879 Molecular network of Smads and Id2 genes in hair follicle stem cells regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Study on Effect of Constant-release Melatonin on SOX21 Gene
Constant-release melatonin reduces SOX21 gene expression in goats during the hair follicle resting phase.
research AKT2 Gene Polymorphisms, sRANKL/OPG and Hormone Measurements in Polycystic Ovarian Syndrome (PCOS) Women
Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
research Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome
A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
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 Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.