research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
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390-420 / 1000+ resultsresearch Ovine KRTAP36-2: A New Keratin-Associated Protein Gene Related to Variation in Wool Yield
The KRTAP36-2 gene in sheep affects wool yield.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Mechanical anisotropy of hair affected by genetic diseases highlights structural information related to differential crosslinking in keratins
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype
Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
research Whn and mHa3 are components of the genetic hierarchy controlling hair follicle differentiation
Whn is crucial for hair growth in certain areas by controlling a specific gene.
research Transcriptome Profile at Different Physiological Stages Reveals Potential Mode for Curly Fleece in Chinese Tan Sheep
Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research The disruption of Sox21-mediated hair shaft cuticle differentiation causes cyclic alopecia in mice
Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.
research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target during Hair Follicle and Nail Differentiation
HOXC13 is essential for hair and nail development by regulating Foxn1.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research HAIR KERATINIZATION IN HEALTH AND DISEASE
Understanding intermediate filaments helps explain hair health and related diseases.
research Drivers of plateau adaptability in cashmere goats revealed by genomic and transcriptomic analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
research Using High-Throughput Immunoblotting to Identify Proteins Involved in the Differentiation of ES Cells along the Hair Follicle Lineage in Vitro
The research helps understand how stem cells turn into hair follicle cells.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research 0950 Exploring hair aging through ex vivo induction of DNA damage and senescence
BrdU speeds up hair follicle aging and reduces hair quality.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Role of collagen VI in peripheral nerves and wound-induced hair regrowth
Collagen VI is crucial for nerve function and affects wound-induced hair regrowth.
research Investigating the roles of cellular senescence in embryogenesis and aging
Cellular senescence is crucial for normal embryonic development but contributes to aging in adults.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research The post-terminal differentiation fate of RNAs revealed by next-generation sequencing
Hair and nails contain stable RNA, useful for personalized medicine and screening.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.