research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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870-900 / 1000+ results research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Role of allopregnanolone biosynthesis in acute stress-induced anxiety-like behaviors in mice
Blocking allopregnanolone production in mice makes them more anxious after stress, but this can be reversed with a drug that mimics allopregnanolone.
research Abstract 4300: Constitutive activation of Stat3 increases hair follicle progenitor population at the expense of bulge region keratinocyte stem cells
Stat3 activation increases hair follicle progenitors but reduces bulge region stem cells.
research Neurosteroids on the Epilepsy Chessboard—Keeping Seizures in Check
Ketogenic diet, neurosteroids, and HMGB1-TLR4 signaling pathway are potential targets for new epilepsy treatments.
research Hair follicle stem cell cultures reveal self‐organizing plasticity of stem cells and their progeny
The study showed that hair follicle stem cells can maintain and organize themselves in a lab setting, keeping their ability to renew and form hair and skin.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Spatio-temporal regulation of gene expression defines subpopulations of epidermal stem cells
Different types of skin stem cells can change and adapt, which is important for developing new treatments.
research ABS0613 BRAIN FOG – A FREQUENT, WORRYING AND UNDER TREATED SYMPTOM OF LUPUS IN PATIENT EXPERIENCE
Brain fog in lupus is common, worrying, and often not treated properly.
research Reply
The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Head Disorders: Telogen Effluvium
Telogen effluvium causes temporary hair loss, but new hair still grows.
research Development of gene therapy for inner ear disease: Using bilateral vestibular hypofunction as a vehicle for translational research
Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst
A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
research Isolation rearing-induced reduction of brain 5α-reductase expression: Relevance to dopaminergic impairments
Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.
research Human epidermal neural crest stem cells as a source of Schwann cells
Human Schwann cells can be quickly made from hair follicle stem cells for nerve repair.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Impaired Fetal Lung Development can be Rescued by Administration of Extracellular Vesicles Derived from Amniotic Fluid Stem Cells
Extracellular vesicles from amniotic fluid stem cells can improve underdeveloped fetal lungs.
research Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice
Overexpressing noggin in mice causes severe osteoporosis.
research The effects of sonic, desert and Indian hedgehog signalling in skin
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
research A single type of progenitor cell maintains normal epidermis
One type of progenitor cell can maintain normal skin in mice.
research Stem cell quiescence acts as a tumour suppressor in squamous tumours
Inactive hair follicle stem cells help prevent skin cancer.
research Cohort Profile: Heart and Brain Investigation in Taicang (HABIT) study
The study aims to find new risk factors and early signs for heart and brain diseases to improve prevention and management.
research There and Back Again: Hair Follicle Stem Cell Dynamics
Hair follicle stem cells can return to their original niche and help regenerate hair.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Defining the impact of β-catenin/Tcf transactivation on epithelial stem cells
β-catenin is essential for stem cell activation and proliferation in hair follicles.
research The blastema and epimorphic regeneration in mammals
Mammals might fail to regenerate not because they lack the right cells, but because of how cells respond to their surroundings, and changing this environment could enhance regeneration.
research Lef1 Contributes to the Differentiation of Bulge Stem Cells by Nuclear Translocation and Cross-Talk with the Notch Signaling Pathway
Lef1 helps stem cells become hair cells by interacting with specific signaling pathways.
research Loss of Dicer in Newborn Melanocytes Leads to Premature Hair Graying and Changes in Integrin Expression
Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.