research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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570-600 / 1000+ resultsresearch Linc-PINT downregulation of TGF-β signaling pathway in heart arrhythmia: an in silico analysis
Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
research Silicon-Related Syndrome in Dialysis Patients
Silicon may affect calcium metabolism in dialysis patients, causing symptoms like skin eruptions and abnormal hair growth.
research 02 Management of difficult infections in SLE
Managing severe infections in SLE patients requires tailored treatment strategies.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Pengaruh Variasi Konsentrasi Sodium Lauril Sulfat Sebagai Surfaktan Pada Sampo Ekstrak Etanol Daun Randu (Ceiba Petandra Gaertn) Terhadap Sifat Fisik Yang Dihasilkan
The shampoo with 10% SLS had the best physical properties.
research Design, Development, and Optimization of Spanlastics for Delivery of Rizatriptan Benzoate
Spanlastics effectively deliver Rizatriptan Benzoate with high efficiency and controlled release.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research PSXIV-17 Examining Mammary Gland Transcriptomic Profiles Using Rna-Seq in Slick and Wild-Type Haired Holstein Cattle Under Tropical Conditions
SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Chemical lumbar sympathectomy in the treatment of idiopathic livedo reticularis
Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
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research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Citrullus colocynthis (L.) Schrad. (Cucurbitaceae)
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Susan Lee Lindquist (1949–2016)—pioneer in the study of cellular protein folding and disease
Susan Lee Lindquist was a pioneering biologist who made significant contributions to understanding protein folding and its role in disease.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research Intracranial hypertension as the first manifestation of systemic lupus erythematosus: A case report
Consider systemic lupus erythematosus in patients with unexplained intracranial hypertension.
research Development and Optimisation of Spironolactone Nanoparticles for Enhanced Dissolution Rates and Stability
Nanoparticles with more oleic acid improved the delivery and stability of the drug spironolactone.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.