research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
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480-510 / 1000+ resultsresearch A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation
NIPP1 is important for healthy skin and could help treat skin inflammation.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research Evaluation of Paraoxonase 1 Serum Level in Male Androgenetic Alopecia Patients
Men with male pattern baldness have lower levels of the antioxidant PON1.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Nitrate‐inducible NIGT1 proteins modulate phosphate uptake and starvation signalling via transcriptional regulation of SPX genes
Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Proline-rich protein-like PRPL1 controls elongation of root hairs in Arabidopsis thaliana
A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
AR polyglycine repeat doesn't cause baldness.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research An important role of podoplanin in hair follicle growth
Deleting podoplanin in mice promotes hair growth by enhancing cell migration.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Embryonic NIPP1 depletion in keratinocytes triggers a cell-cycle arrest and premature senescence in adult mice
Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.