research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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690-720 / 1000+ results research Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata
Certain IL-18 gene variations may increase the risk of alopecia areata.
research Polymorphism of Keratin Gene KRT71 and Its Relationship with Wool Properties in Gansu Alpine Fine-Wool Sheep
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
research Genetic Polymorphisms of the 3'-Untranslated Regions (3'-UTR) of the HSP 70 Gene in Moa Buffalo (Bubalus bubalis)
Two genetic variations in Moa buffalo help them adapt to heat.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research 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 Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Transglutaminase-3, an esophageal cancer-related gene
Transglutaminase-3 is often reduced in esophageal cancer.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research LGR5 is a Marker of Poor Prognosis in Glioblastoma and is Required for Survival of Brain Cancer Stem‐Like Cells
High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
research Proliferation, DNA repair and apoptosis in androgenetic alopecia
Bald areas have lower cell growth, more DNA damage, and increased cell death.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Expression of a dominant negative mutant of epidermal growth factor receptor in the epidermis of transgenic mice elicits striking alterations in hair follicle development and skin structure.
Blocking EGFR in mice causes hair loss and skin changes.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Hidradenitis secondary to nirogacestat, a recently approved desmoid tumor medication
Nirogacestat can cause severe skin issues like hidradenitis suppurativa.
research Combined C3b and Factor B Autoantibodies and MPGN Type II
The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
research One Transgene: Two Outcomes
Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
research Abstract 1219: Defective catagen entry in EGFR deficient skin precedes cutaneous inflammation
EGFR deficiency in skin causes hair follicle issues and inflammation.
research Different Requirements for GFRα2-Signaling in Three Populations of Cutaneous Sensory Neurons
GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
research An unexpected role for keratin 10 end domains in susceptibility to skin cancer
Keratin 10 end domains may increase skin cancer risk by reducing cell death.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research Cell‐free transcriptomic profiles and mechanism insights in female androgenetic alopecia
DNAJB9 cfRNA could help diagnose and treat female hair loss.