research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Provenge is Talk of GU Malignancies Congress
Provenge extends prostate cancer survival by about 4 months.
research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
research Multicentric parallel phase II trial of the polo-like kinase 1 inhibitor BI 2536 in patients with advanced head and neck cancer, breast cancer, ovarian cancer, soft tissue sarcoma and melanoma. The first protocol of the European Organization for Research and Treatment of Cancer (EORTC) Network Of Core Institutes (NOCI)
BI 2536 had limited effectiveness against several advanced cancers and caused significant side effects.
research Bis-Benzylisoquinoline Alkaloids Inhibit Porcine Epidemic Diarrhea Virus In Vitro and In Vivo
Certain plant compounds can help prevent and treat a virus in pigs.
research Structures of three polycystic kidney disease-like domains fromClostridium histolyticumcollagenases ColG and ColH
The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
research LB1056 Phase 1b: Translational evaluation of VYN201, a pan-BD BET inhibitor, for the treatment of non-segmental vitiligo
VYN201 shows promise as a safe and effective treatment for non-segmental vitiligo.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research Microscopic evaluation, ethnobotanical and phytochemical profiling of a traditional drug Viola odorata L. from Pakistan
research Étude PCPT : les biais attendus et leur gestion
Systematic end-of-trial biopsies are the most reliable way to assess outcomes.
research 17927 A pilot study of intrascalp platelet-rich plasma injections for hair loss in Nigerian patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Diphencyprone Induced Vitiligo: A Case Report
Diphencyprone can cause unexpected and possibly permanent vitiligo.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder
VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
research Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: review.
research A rare case of complete Vogt-Koyanagi-Harada disease presenting to a tertiary care hospital in late stage: Clinical features, diagnosis, and management
A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
research Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
research PCSK9: From Nature’s Loss to Patient’s Gain
Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
research 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs)
ATP-sensitive potassium channels are important for hair growth.
research Genetic effects of vascular endothelial growth factor and its receptor 2 on feather maturity in three chicken breeds
VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
research Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
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research Peptichemio: A New Oncolytic Drug in Combination with Vincristine and Prednisolone in the Treatment of Non-Hodgkin Lymphomas
The treatment was effective for advanced non-Hodgkin's lymphomas.
research Construction and Verification of Recombinant Follicle-specific Expression Vector
The vector successfully directed specific gene expression in hair follicles.