Results 71 to 80 of about 53,853 (212)

Molecular genetics of cataract.

open access: yesIndian Journal of Ophthalmology, 2000
Studies on hereditary congenital cataracts have led to the identification of genes involved in formation of these cataracts. Knowledge of the structure and function of a particular gene and the effect of disease-associated mutations on its function are ...
Kannabiran Chitra, Balasubramanian D.
doaj  

Simple and highly specific targeting of resident microglia with adeno-associated virus

open access: yesiScience
Summary: Microglia, as the immune cells of the central nervous system (CNS), play dynamic roles in both healthy and diseased conditions. The ability to genetically target microglia using viruses is crucial for understanding their functions and advancing ...
Carolina Serrano   +4 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider   +15 more
wiley   +1 more source

Natural Killer Cells in Paediatric Soft Tissue Sarcomas: A Systematic Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Paediatric soft tissue sarcomas (pSTS) are a rare and heterogeneous group of malignant tumours arising in tissues of mesenchymal origin. The role of natural killer (NK) cells in pSTS remains poorly understood, with evidence fragmented across small preclinical studies and early‐phase clinical trials.
Raya Dean   +7 more
wiley   +1 more source

MOLECULAR GENETICS FUNDAMENTALS AND WOMEN DISEASES GENЕTIC RISK FACTORS

open access: yesМедицинский вестник Юга России, 2016
Exponential data quantity growth in the field of molecular genetics and genetic terminology growing list can easily confuse the doctor who doesn’t have special preparation.
E. A. Maylyan, D. E. Maylyan
doaj   +1 more source

The Role of Chemotherapy in Pediatric Myoepithelial Carcinoma: A Systematic Review of the Literature

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Myoepithelial carcinoma (MEC) in pediatric patients is a rare and aggressive malignancy characterized by heterogeneous morphology and variable molecular features. The optimal role of chemotherapy remains unclear. We conducted a systematic review according to PRISMA 2020 guidelines to evaluate chemotherapy in pediatric and young‐adult patients ...
Marco Salvi   +7 more
wiley   +1 more source

Nephrogenic Rests/Nephroblastomatosis in Patients With Unilateral Wilms Tumor Are Not Associated With an Increased Risk of Relapse: An Analysis of Patients Treated on the SIOP‐WT‐2001 Protocol in the SIOP‐UK‐CCLG and SIOP‐GPOH Studies (2001–2022)

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Nephrogenic rests (NRs) and nephroblastomatosis (NBM) are precursor lesions for development of Wilms tumor (WT). Their association with the risk of relapse has not been properly assessed, partly due to misunderstanding of their diagnostic criteria and terminology.
Gordan M. Vujanić   +5 more
wiley   +1 more source

The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression

open access: yesiScience, 2020
Summary: Haploinsufficiency of SETD5 is implicated in syndromic autism spectrum disorder (ASD), but the molecular mechanism underlying the pathological role of this protein has remained unclear.
Tadashi Nakagawa   +12 more
doaj   +1 more source

Time to Diagnosis Among Children and Adolescents With Cancer in Québec, Canada: A Population‐Based Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Timely cancer diagnosis in children and adolescents is important to improving outcomes. We aimed to quantify time to diagnosis and assess variations by patient, demographic and system‐level factors. Procedure We conducted a population‐based study of individuals aged 0–19 years diagnosed with one of 12 cancers from 2010 to 2022 in ...
Callum Mullen   +5 more
wiley   +1 more source

rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression

open access: yesiScience, 2020
Summary: Long-chain polyunsaturated fatty acids (LC-PUFAs) influence human health in several areas, including cardiovascular disease, diabetes, fatty liver disease, and cancer.
Gang Pan   +5 more
doaj   +1 more source

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