research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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480-510 / 1000+ resultsresearch Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Single-cell chromatin landscapes of mouse skin development
The study maps how genes are regulated during mouse hair growth.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research Cytoplasmic Ca2+ concentrations in intact Merkel cells of an isolated, functioning rat sinus hair preparation
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
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 RELAÇÃO ENTRE O TRANSTORNO DO ESPECTRO AUTISTA E A SÍNDROME DO CROMOSSOMO X FRÁGIL
research Disulfide Cross-Linked Network Structure of Intermediate Filament and Matrix in Hair and Wool Cortices
Hair and wool strength is affected by the number and type of bonds in their protein structures, with hair having more protein aggregates than wool.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research 440 Charting the Spatially Resolved Hair Follicle Stem Cell Niche: A Multi-Omics Atlas of Healthy and Diseased Scalp
Disrupted cell interactions in hair follicles contribute to hair loss in androgenetic alopecia.
research Diffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario
A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Roles of two sphingomyelin synthase isoforms in murine hair
Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
research Association between DNA Methylation in the Core Promoter Region of the CUT-like Homeobox 1 (CUX1) Gene and Lambskin Pattern in Hu Sheep
DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
research The mouse keratin 6 isoforms are differentially expressed in the hair follicle, footpad, tongue and activated epidermis
Mouse keratin 6 isoforms have different expression patterns in various tissues.
research Mapping Human Skin: One Sequenced Cell at a Time
The article concludes that creating a detailed map of normal human skin at the single-cell level is important.
research Cationic Ionic Liquid-Liposome Nanoplatform for Transdermal asiRNA Delivery: A Unified Therapy for Androgen-Dependent Dermatoses
research Core Curriculum for Hair Restoration Surgery, Recommended by the International Society of Hair Restoration Surgery (ISHRS)
The International Society of Hair Restoration Surgery established a curriculum in 2005 to standardize knowledge and skills for treating hair loss, emphasizing it as a multidimensional specialty.
research 060 Heterogeneity and lineage development of memory CD8+ T cells after viral infection of skin
research Isolation and characterization of hair follicle stem cells from Arbas Cashmere goat
research Cultured Human Foreskin as a Model System for Evaluating Ionizing Radiation-Induced Skin Injury
Human foreskin does not show aging or reduced cell growth after radiation, and H2A.J is not a good marker for radiation-induced aging.