research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
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510-540 / 1000+ results research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research An Investigation of Hair and its Keratin Associated Proteins using Advanced Light Microscopy
Advanced microscopy shows hair damage and keratin proteins' roles, aiding future cosmetic treatments.
research sc-eQTL unveil Immunogenetic Architecture of Polycystic Ovary Syndrome
PCOS involves genetic and immune factors, especially T cells, affecting its development.
research Bud fruitfulness assessment and pruning
Different tissues in cows have different types of cytokeratins.
research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair
KRTAP genes evolved early in mammals, leading to diverse hair traits.
research A guide for building biological pathways along with two case studies: hair and breast development
The document explains how to create detailed biological pathways using genomic data and tools, with examples of hair and breast development.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Quantitative Analysis of the Characteristics between Normal Controls and Androgenetic Alopecia in Korean Using the Simple Hand-held Phototrichogram System
research Potential Involvement of the Stem Cell Factor Receptor c-kit in Alopecia Areata and Androgenetic Alopecia: Histopathological, Immunohistochemical, and Semiquantitative Investigations
c-kit affects hair growth and color in alopecia areata and androgenetic alopecia.
research Analysis of proliferation, apoptosis and keratin expression in cultured normal and immortalized human buccal keratinocytes
SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Diversity of human skin three-dimensional organotypic cultures
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome
PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
research Is polymorphism of the STK11 gene a predictor of response to metformin in polycystic ovarian syndrome?
STK11 gene polymorphism does not predict metformin response in PCOS.
research Le point de vue du pathologiste concernant l’étude PCPT
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
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.
research Evaluation of noninvasive biospecimens for transcriptome studies
Hair follicles and urine cell pellets are promising for transcriptome studies.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research Cytokeratin expression in trichoblastic fibroma (small nodular type trichoblastoma), trichoepithelioma and basal cell carcinoma
Trichoblastic fibroma and basal cell carcinoma are similar but different from trichoepithelioma.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Keratins: Dynamic, flexible structural proteins of epithelial cells
Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.