research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
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570-600 / 1000+ resultsresearch 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 Trends in the presence or absence of transaminitis and/or leukopenia in pediatric patients treated with methotrexate for inflammatory skin disease
Most children with skin inflammation taking methotrexate had lab abnormalities, but liver issues often improved without changing the medication dose.
research High-resolution structures of mutants of residues that affect access to the ligand-binding cavity of human lipocalin-type prostaglandin D synthase
Mutations in the enzyme don't significantly change how it binds to its specific substances.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Long-term detection of methyltestosterone (ab-) use by a yeast transactivation system
A yeast-based test can detect the steroid methyltestosterone in urine longer than traditional methods.
research Sequence Analysis of mtDNA NADH-Ubiquinone Oxidoreductase Chain 1 Gene (ND1) of the Asian Black Bear Sichuan Subspecies (Ursus thibetanus mupinensis)
The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research 554 Repurposing a clinical antimalarial for the therapeutic induction of lethal ER stress targeting BRAF-kinase inhibitor-resistant malignant melanoma
Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
research Sulfotransferases, sulfatases and formylglycine-generating enzymes: a sulfation fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
research Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype
A genetic change in the FGF5 gene affects hair growth in cashmere goats.
research Methotrexate injection site reactions: Case report and literature review
Methotrexate injection site reactions are rare but can be managed by changing injection sites and using topical treatments.
research Nail Hyperpigmentation Following Valproic Acid Use: A Rare Case Report
Valproic acid can rarely cause reversible nail discoloration.
research Synthesis and anticancer activity evaluation of Novel 6 mercaptopurine derivatives.
Compound 1 showed promising anticancer activity.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research Synthesis of a new amino acid derivative with long‐lasting hair shape control effects and elucidation of its mechanisms
A new amino acid derivative, ATS, improves hair texture and moisture, making it easier to straighten curly hair.
research A volatile producing Bacillus subtilis strain from the rhizosphere of Haloxylon ammodendron promotes plant root development
The conclusion is that certain chemicals from Bacillus subtilis help improve plant root growth through a hormone-related process.
research Trichodysplasia of immunosuppression treated with oral valganciclovir
Oral valganciclovir improved a patient's skin condition caused by immunosuppression.
research Steroid-sparing effect of mycophenolate mofetil in the treatment of a subepidermal blistering autoimmune disease in a dog : clinical communication
Mycophenolate mofetil helped reduce steroid use in treating a dog's autoimmune skin disease.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research MON-407 The Double-Edged Sword of Methimazole: Managing Graves' Disease with a Twist
Methimazole can cause severe low platelet count in Graves' disease patients, so monitoring and alternative treatments are important.
research Anagen effluvium due to azathioprine in a patient with normal thiopurine S-methyltransferase levels: A videodermoscopic analysis
A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
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 Action of Nucleophilic Reagents on Hair Keratin
Nucleophilic reagents break down hair keratin, forming more lanthionine and lysinoalanine than in wool.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Cystatin M/E Is a High Affinity Inhibitor of Cathepsin V and Cathepsin L by a Reactive Site That Is Distinct from the Legumain-binding Site
Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.