research Human hair production by scalp samples grafted onto nude mice. Biochemical data on normal human hair and the genetic defect trichothiodystrophy
Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
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750-780 / 1000+ resultsresearch Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Ectoin attenuates cortisone‐induced skin issues by suppression GR signaling and the UVB ‐induced overexpression of 11β‐HSD1
Ectoin helps prevent cortisone-induced skin problems and supports skin health.
research Structures of three polycystic kidney disease-like domains fromClostridium histolyticumcollagenases ColG and ColH
The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
research The Influence of Electrode Potentials on the Extent of Reduction of Cystine in Hair Fibers by Reducing Agents
The effectiveness of reducing agents on hair fibers depends on their electrode potentials.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research Cronkhite-Canada Syndrome Associated With Superficial Esophageal Carcinoma: A Case Report and Literature Review
Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Estrogenic Potential of 2-Alkyl-4-(thio)chromenone 6-O-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase
A substance called Compound 2g can strongly block STS (a hormone-related enzyme) without affecting estrogen levels, making it potentially good for treating breast cancer.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research The Significance of NOTCH Pathway in the Development of Fibrosis in Systemic Sclerosis
Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Scleroderma and L-tryptophan: A possible explanation of the eosinophilia-myalgia syndrome
Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
research Nephrogenic systemic fibrosis: Report of two cases
The document concludes that using gadolinium-based contrast agents during MRI can be linked to Nephrogenic Systemic Fibrosis in patients with severe kidney disease.