research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
Search
for
Sort by
Research
60-90 / 1000+ results research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research RSL4 regulatory network acts as an early driver of root hair growth at low temperature in Arabidopsis thaliana
A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
research HDL as Therapeutic Tools
Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
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.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Puberty induction with recombinant gonadotropin: What impact on future fertility?
Recombinant gonadotropins improve future fertility in CHH patients.
research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression
PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research Enriched-GF: A Reproducible High-Yield Autologous Blood-Derived Growth Factor Method for Regenerative Medicine
The Enriched-GF method efficiently produces high-yield growth factors for tissue repair.
research 078 The transmembrane protein LRIG1 regulates receptor tyrosine kinases in skin development and homeostasis
LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
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 Identification and characterization of an antisense RNA transcript (gfg) from the human basic fibroblast growth factor gene.
Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research 3 alpha, 17 beta-androstanediol glucuronide in plasma. A marker of androgen action in idiopathic hirsutism.
High levels of 3 alpha-diol glucuronide in the blood are a marker of increased androgen action in women with excessive hair growth of unknown cause.
research Ovarian hyperthecosis coexisting with an incidental adrenal lesion: challenges in the diagnostic approach
Using GnRHa agonists helps diagnose and treat ovarian hyperthecosis when surgery isn't possible.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
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 GH-IGF-I axis in non-obese women with functional hyperandrogenism
The GH-IGF-I axis is likely involved in the hormonal imbalances seen in non-obese women with functional hyperandrogenism.
research Plasma rich in growth factors (PRGF) for the treatment of androgenetic alopecia
PRGF treatment safely and effectively helps hair loss.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Der Einfluss von pdHGF auf die Wundheilung
pdHGF speeds up wound healing and hair growth.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Hepatocyte growth factor (HGF) activator expressed in hair follicles is involved in in vitro HGF-dependent hair follicle elongation
HGF activator helps convert HGF to its active form, promoting hair growth.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.