research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
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900-930 / 1000+ resultsresearch EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath
A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
research WNT10A promotes an invasive and self-renewing phenotype in esophageal squamous cell carcinoma
WNT10A helps esophageal cancer cells spread and keep renewing themselves.
research WNT10B (wingless-type MMTV integration site family)
WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
research Arginine Metabolic Disruption Impairs Hair Regeneration via ROS-Mediated Inactivation of mTOR Signaling in Androgenetic Alopecia.
Arginine deficiency hinders hair growth in androgenetic alopecia, but restoring it can promote hair regeneration.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
research Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research Author response: Loss of Dnmt3a and Dnmt3b does not affect epidermal homeostasis but promotes squamous transformation through PPAR-γ
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
research CAG polymorphism in the androgen receptor gene in women may be associated with nodulocystic acne
Certain gene variations might be linked to severe acne in women but not in men.
research Subchronic study of sperm morphology, genotoxic and mutagenic effect of Lepidium sativum seeds aqueous extract in vivo
High doses of Lepidium sativum seed extract are toxic and should be used with caution.
research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12
The MTR gene affects wool quality and production in Chinese Merino sheep.
research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Development of squamous cell carcinoma from erythroplasia of Queyrat following photodynamic therapy
Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
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 KRASG12D mutant cells are outcompeted by wild type neighbours in adult pancreas in an EPHA2-dependent manner
Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research Characters of KRT80 and its roles in neoplasms diseases
KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.
research Serum interleukin-37 and its gene polymorphism (rs3811047) in Egyptian patients with alopecia areata
research Cetuximab-Associated Elongation of the Eyelashes
Cetuximab can cause eyelash growth, which is rare but manageable.
research Retinoid-mediated stimulation of steroid sulfatase activity in myeloid leukemic cell lines requires RARα and RXR and involves the phosphoinositide 3-kinase and ERK-MAP kinase pathways
Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.