research Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency
Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
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60-90 / 1000+ resultsresearch A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research P-13 Some biomechanical properties of human hair keratin (HHK) artificial tendon
research Possible role of β‐hydroxybutyrate in inducing inflammation in alopecia areata
High beta-hydroxybutyrate levels may worsen hair loss in alopecia areata.
research Δ5-3β-Hydroxysteroid Dehydrogenase Activity in Sebaceous Glands of Scalp in Male-Pattern Baldness
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
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.
research Distribution of major histocompatibility antigens in normal skin
Major histocompatibility antigens are found in specific skin cells and structures, but not in sweat glands.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Functional mapping of the mouse hairless gene promoter region
Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
research Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers
The hairless protein is important for skin, hair, and may influence cancer development.
research Assembly of Hair Keratins in Transfected Epithelial Cells
Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research THBS4 promotes hair regeneration by inducing dermal mechanical niche adaptation
THBS4 helps hair grow by activating hair follicle stem cells.
research Modulation of Vitamin D Receptor Activity by the Corepressor Hairless: Differential Effects of Hairless Isoforms
Different Hairless isoforms affect Vitamin D receptor activity in hair regulation, with one repressing and the other stimulating it.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Effects of Huoxue Bushen Mixture on skin blood vessel neogenesis and vascular endothelial growth factor expression in hair follicle of C57BL/6 mice
HXBSM boosts blood vessel growth and hair growth in mice.
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 268 Use of ultra-fast one-step CK5 ihc for identifying bcc and scc during mohs surgery
A new one-step test can quickly identify skin cancer during surgery.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.