research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
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600-630 / 1000+ resultsresearch Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin?
Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.
research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research The Enzymic Derivation of Citrulline Residues from Arginine Residues In Situ during the Biosynthesis of Hair Proteins that are Cross-Linked by Isopeptide Bonds
Hair follicles have an enzyme that converts arginine to citrulline in proteins.
research Hydroxytyrosol prevents dermal papilla cells inflammation under oxidative stress by inducing autophagy
Hydroxytyrosol from olive oil helps protect hair cells from damage and could prevent hair loss.
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 Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research All-trans retinoic acid induced the differentiation of amelanotic melanocytes of human hair follicle
All-trans retinoic acid helps amelanotic melanocytes in hair follicles develop and produce pigment while reducing their growth.
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 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 Metabolite screening of aromatic amine hair dyes usingin vitrohepatic models
The tested hair dye ingredients do not form harmful oxidized metabolites in the liver.
research Enhancing 1α-Hydroxylase Activity with the 25-Hydroxyvitamin D-1α-Hydroxylase Gene in Cultured Human Keratinocytes and Mouse Skin
Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Thyrotropin releasing hormone (TRH): a new player in human hair‐growth control
TRH stimulates human hair growth and extends the hair growth phase.
research Melanocyte Subpopulation Turnover During the Human Hair Cycle: An Immunohistochemical Study
Melanocyte activity in hair follicles is linked to the hair growth cycle, being active in growth phases and inactive in rest phases.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research Thyroid-Stimulating Hormone, a Novel, Locally Produced Modulator of Human Epidermal Functions, Is Regulated by Thyrotropin-Releasing Hormone and Thyroid Hormones
The skin produces and responds to thyroid-stimulating hormone, which is controlled by other thyroid-related hormones.
research Innovative Therapeutic Strategies in TYK2-Targeted Treatments: From Cancer to Autoimmune Disorders
TYK2 inhibitors show promise for treating cancer and autoimmune disorders.
research The Fate of Trichohyalin
Trichohyalin is modified by enzymes to form strong structures in hair cells.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4-lsomerase in Human Adrenals and Gonads
Human adrenals and gonads have a unique enzyme for steroid hormone production.