research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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90-120 / 1000+ resultsresearch Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
Improving CRISPR/Cas systems can make gene editing more efficient and precise.
research Aging in the sebaceous gland
Sebaceous glands age due to genetic and environmental factors, affecting sebum production and composition.
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 Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Evo Devo of the Vertebrates Integument
The skin systems of jawed vertebrates evolved diverse appendages like hair and scales from a common structure over 420 million years ago.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research Antiandrogenic activity of Riboflavin 5′-phosphate (FMN) in 22Rv1 and LNCaP human prostate cancer cell lines
Riboflavin 5′-phosphate (FMN) shows potential for treating androgen-related conditions but may be limited in treating prostate cancer.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Morpho-Regulation of Ectodermal Organs
Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
research Study ofDemodexmites: Challenges and Solutions
The conclusion is that a new biopsy technique and humidity chamber help study skin mites better and suggest mite overpopulation may cause skin diseases.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Topical Application of Oleuropein Induces Anagen Hair Growth in Telogen Mouse Skin
Olive leaf compound oleuropein helps grow hair in mice.
research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
research Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research c-Kit - The Novel Receptor: Physiological Roles, Downstream Signaling and Implications in Cancer
c-Kit is important for heart regeneration and cancer development.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Whole-Cell Bioprocessing of Human Fetal Cells for Tissue Engineering of Skin
Fetal cells could improve skin repair with minimal scarring and are a potential ready-to-use solution for tissue engineering.
research Limitations of human occipital scalp hair follicle organ culture for studying the effects of minoxidil as a hair growth enhancer
Scalp hair follicle culture has limits for testing minoxidil's hair growth effects.
research The activin binding proteins follistatin and follistatin-related protein are differentially regulated in vitro and during cutaneous wound repair
FLRG and follistatin have different roles in wound healing.
research p63: a crucial player in epithelial stemness regulation
p63 is essential for controlling epithelial stem cells and tissue health.
research Alopecia areata update
Half of people with Alopecia Areata may see hair regrowth within a year without treatment, but recovery is unpredictable.
research Hairless is a nuclear receptor corepressor essential for skin function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.