research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
Search
for
Sort by
Research
330-360 / 1000+ resultsresearch Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
research Molecular cloning and characterization analysis of LEF-1 gene from Inner Mongolia Cashmere Goat
The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Expression ofSfrp2Is Increased in Catagen of Hair Follicles and Inhibits Keratinocyte Proliferation
Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
research Effects of KRTAP20-1 Gene Variation on Wool Traits in Chinese Tan Sheep
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
research Supplementary materials for AGA
research Disruption of FGF5 in Cashmere Goats Using CRISPR/Cas9 Results in More Secondary Hair Follicles and Longer Fibers
CRISPR/Cas9 gene editing in cashmere goats increases hair follicles and fiber length, boosting cashmere yield.
research Supplementary materials for AGA
research Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
research A Unique Type I Keratin Intermediate Filament Gene Family is Abundantly Expressed in the Inner Root Sheaths of Sheep and Human Hair Follicles
research Phenotypic, transcriptomic, and genomic analyses reveal the spatiotemporal patterns and associated genes of coarse hair density in goats
The gene GJA1 is important for regulating coarse hair density in goats.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Hair Follicle Pluripotent Stem (hfPS) Cells
research Antisense oligonucleotide targeting fibroblast growth factor receptor (FGFR)-1 stimulates cellular activity of hair follicles in anin vitroorgan culture system
Targeting FGFR-1 with antisense oligonucleotides may help treat baldness by increasing hair follicle activity.
research Sulfotransferases, sulfatases and formylglycine-generating enzymes: a sulfation fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
research FitSpresso (Dietary Supplement) Support Healthy Weight Loss Journey To Get Slim Faster!
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research GATA3 inhibits proliferation and induces expression of both early and late differentiation markers in keratinocytes of the human epidermis
research Fibroblast Growth Factor Influences the Development and Cycling of Murine Hair Follicles
bFGF delays hair growth in mice.
research Helminth protein enhances wound healing by inhibiting fibrosis and promoting tissue regeneration
Helminth protein helps wounds heal better by reducing scarring and promoting tissue growth.
research Reprofiling synthetic glucocorticoid-induced leucine zipper fusion peptide as a novel and effective hair growth promoter
TAT-GILZ peptide promotes hair growth by boosting stem cell activity.
research Plasma Rich in Growth Factors as an Adjuvant Treatment for the Management of Frontal Fibrosing Alopecia: A Retrospective Observational Clinical Study
Plasma Rich in Growth Factors may help reduce hair loss in Frontal Fibrosing Alopecia.
research WISP-1 induced by mechanical stress contributes to fibrosis and hypertrophy of the ligamentum flavum through Hedgehog-Gli1 signaling
Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Follistatin and secreted frizzled-related protein 1, OVO homolog-like 1-regulated genes, are important for hair follicle neogenesis
Certain genes controlled by OVOL1 are crucial for creating new hair follicles.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.