research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Expression of nerve growth factor in skin tissues and its effect on the proliferation of outer root sheath cells in cashmere goats
Nerve growth factor helps cashmere goat hair cells grow and is more active during the hair growth phase.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Heparanase 1: a key participant of inner root sheath differentiation program and hair follicle homeostasis
Heparanase is essential for hair follicle health and inner root sheath differentiation.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Androgen-induced norepinephrine release in male accessory sex organ smooth muscle growth and differentiation
Androgens increase norepinephrine release, promoting smooth muscle growth in male sex organs, which may contribute to benign prostatic hypertrophy.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Embryonic NIPP1 depletion in keratinocytes triggers a cell-cycle arrest and premature senescence in adult mice
Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Regulation of a hair follicle keratin intermediate filament gene promoter
The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
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 Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype
Whn is essential for hair growth, and its malfunction causes hair loss.
research 706 Engrailed-1 promotes eccrine sweat gland development in permissive environments
The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
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 MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research The structure of hair and follicles of mice carrying the naked (N) gene
Mice with the naked gene have missing or abnormal hair cells.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Application of second near infrared fluorescence imaging to trace CelTrac1000-labeled hair follicle epidermal neural crest stem cells in repairing rat facial nerve defects
NIR-II imaging effectively tracked stem cells that helped repair facial nerve defects in rats.
research Neurotrophins, nociceptors, and pain
Neurotrophins, especially NGF, are crucial for pain development and management.
research Alk1 acts in non-endothelial VE-cadherin+ perineurial cells to maintain nerve branching during hair homeostasis
Alk1 in specific cells is crucial for proper nerve branching and hair function.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research 1433 Role of BNC1 in keratinocytes proliferation and migration: A critical regulator of wound healing?
Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research The variable cell
Hairless protein is key for hair growth, cell differences cause gene expression variation, and the N-end rule pathway senses nitric oxide for protein breakdown.