research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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research Hair follicle morphogenesis and epidermal homeostasis in we/we wal/wal mice with postnatal alopecia
The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Skin-specific transgenic overexpression of ovine β-catenin in mice
Overexpressing ovine β-catenin in mice skin increases hair follicle density and growth.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
research This month in JAAD Case Reports: October 2023—Central centrifugal cicatricial alopecia in Black men
CCCA affects Black men too, with a genetic link found in the PADI3 gene.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) Affects Keratin 1 and Keratin 17 Gene Expression and Differentially Induces Keratinization in Hairless Mouse Skin
research IMMUNOHISTOCHEMICAL EXPRESSION OF KERATIN PROTEINS IN KERATOACANTHOMAS OF THE SKIN
Keratoacanthomas and squamous cell carcinomas have similar keratin patterns, making them hard to tell apart.
research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research Formation of regulator/target gene relationships during evolution
Gene regulatory regions evolve faster than protein coding regions, allowing new gene relationships without changing transcription factors.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research 1381 Investigating the role of Mef2c in hair follicle cycling
MEF2C is crucial for normal hair cycle progression.
research Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research Keratinization and its Disorders
Mutations in keratin genes can cause skin and mucosa disorders.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
research Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
Mouse models are essential for studying and improving genetic traits in agriculture.
research 성장기 모낭에서 큐티클층의 각질화 과정
The cuticle layer in hair follicles thickens during keratinization due to incomplete cytosol loss.
research Evolution of hard proteins in the sauropsid integument in relation to the cornification of skin derivatives in amniotes
Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research Histological characterisation of the skin of the Paraechinus hypomelas, Brandt, 1836 (Erinaceidae: Eulipotyphla)
Brandt's hedgehog has thick skin on its back and many glands near its nostrils.
research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
research Analysis of Keratin-Associated Protein-7 (KRTAP7) protein structure and function in Indian dromedary camel (Camelus dromedarius)
All Indian dromedary camel breeds have the same KRTAP7 gene affecting hair quality.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.