research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
Search
for
Sort by
Research
540-570 / 1000+ resultsresearch Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Protein kinase Cepsilon is linked to 12-O-tetradecanoylphorbol-13-acetate-induced tumor necrosis factor-alpha ectodomain shedding and the development of metastatic squamous cell carcinoma in protein kinase Cepsilon transgenic mice.
Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Osteopontin regulatory functions in the hair follicle open a therapeutic approach for hypertrichosis
FOL-005 peptide may help treat excessive hair growth safely.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Ptch2 is a Potential Regulator of Mesenchymal Stem Cells
Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
TRPS1 is crucial for bone, kidney, and hair follicle development.
research Phospholipase C‐δ1 is an essential molecule downstream of Foxnl, the gene responsible for the nude mutation, in normal hair development
Phospholipase C-δ1 is crucial for normal hair development.
research Contribution à l'étude du lien entre Annonaceae et parkinsonisme : identification et quantification d'acétogénines par déréplication; métabolisation de phase I et approche de la distribution de l'annonacine
Thymosin β4 helps with healing, inflammation, and organ protection.
research Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research A cell polarity protein, aPKCλ, is essential for maintaining hair follicle stem cell quiescence and hair follicle regeneration
The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Bidirectional binding property of high glycine–tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair
High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Faculty Opinions recommendation of Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling.
Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
research Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins
The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
research TTNPB Promotes Human Pluripotent Stem Cell‐to‐Neural Stem Cell Transition via Modulation of Chromatin Accessibility and the S‐(5′‐adenosyl)‐L‐homocysteine/Choline Metabolic Network
TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
research Folliculin: A surprising molecular brake in the human hair follicle
Folliculin slows hair growth, and blocking it might help treat hair loss.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.