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.
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450-480 / 1000+ resultsresearch 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research THE APPLICATION OF PARTITION CHROMATOGRAPHY TO THE SEPARATION OF RARE EARTH ELEMENTS
PCOS causes hormonal imbalances and health issues like infertility and heart disease.
research Megatransplants in Transition: A Pictorial Review
The document's conclusion cannot be provided because the content is not available to parse.
research Selective isomerization of α-pinene oxide to campholenic aldehyde by ionic liquid-supported indenyl-molybdenum(II)-bipyridine complexes
The process efficiently converts α-pinene oxide to campholenic aldehyde using a special catalyst, achieving high yields quickly.
research Synthesis, Biological Evaluation and Molecular Docking of Avicequinone C Analogues as Potential Steroid 5α-Reductase Inhibitors
Certain compounds, especially those with a propionic substituent, could potentially be new treatments for hair loss and similar disorders.
research Ritlecitinib in Alopecia Areata: A 24‐Week Real‐World Experience Contrasting JAK Inhibitor‐Naïve and JAK Inhibitor‐Experienced Patients
Ritlecitinib effectively reduces hair loss in JAK inhibitor-naïve alopecia areata patients.
research 3a-Phenylhexahydropentalene-1,6-dione
A rigid compound with a common structural motif was successfully synthesized.
research A Study on the Clinical Profile and Pharmacogenetics of Methotrexate Treatment in Patients with Rheumatoid Arthritis.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
research Long-term Efficacy and Safety of Ritlecitinib in Adults and Adolescents with Alopecia Areata: 3-year Results from the ALLEGRO-LT Phase 3, Open-label Study
Ritlecitinib is effective and safe for long-term treatment of alopecia areata.
research Quantification of Riboflavin and Thiamine in GI (Geographical Indication) Branded Yogurts Collected from Bogura, Bangladesh Using HPLC Equipped with a Fluorescence Detector
The conclusion is that the tested yogurts from Bangladesh are rich in vitamins thiamine and riboflavin, and the testing method is reliable.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Ritlecitinib: Efficacy of a Novel Therapy for Severe Alopecia Areata in Patients Aged 12 Years and Older
Ritlecitinib is effective and safe for treating severe alopecia areata in people aged 12 and older.
research Ritlecitinib Efficacy in Adolescents With Alopecia Areata: A Real‐World Experience
Ritlecitinib shows promise in improving hair regrowth in adolescents with alopecia areata.
research Parry-Romberg Syndrome Augmented by Hyaluronic Acid Filler
Hyaluronic acid filler can safely and effectively improve facial contour in Parry-Romberg Syndrome.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Index of Suspicion
The document's conclusion cannot be summarized because the content is not available to parse.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Patient satisfaction with hair regrowth in a study of ritlecitinib: a plain language summary
Patients were very satisfied with hair regrowth after taking ritlecitinib for alopecia areata.
research Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep
The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
research Synthesis and structure–activity investigation of iodinated arylhydantoins and arylthiohydantoins for development as androgen receptor radioligands
Scientists created iodinated arylhydantoins and arylthiohydantoins that could potentially be used for imaging prostate cancer. Some versions with specific side-chains showed high potential for this use.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.