research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
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research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research CBL1‐CIPK26‐mediated phosphorylation enhances activity of the NADPH oxidase RBOHC, but is dispensable for root hair growth
A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research AIMP1-derived peptide secreted from hair follicle stem cells activates dermal papilla cells to promote hair growth
A peptide from hair follicle stem cells promotes hair growth by activating specific skin cells.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Two-ligand priming mechanism for potentiated phosphoinositide synthesis is an evolutionarily conserved feature of Sec14-like phosphatidylinositol and phosphatidylcholine exchange proteins
A protein in plants needs to bind two lipids to help with root hair growth, and this process is similar across different plant species.
research KRT72 wt Allele
KRT72 gene helps form hair.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is crucial for normal hair structure and pigmentation.
research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Pannexin 3 regulates skin development via Epiprofin
Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Expression of novel keratin associated protein 5 genes in the cuticle layer of human hair follicles
The study found nine new hair protein genes in human hair follicles.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns
A gene called Taqpep affects cat coat patterns like stripes and blotches.
research Introduction: splintering urbanism
TSPO might help treat anxiety and depression.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
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 WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research 257 Is EBF1 a negative regulator of WNT10A in the development of androgenetic alopecia?
Finasteride helps female-pattern hair loss.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.