Results 31 to 40 of about 3,924,229 (269)

Gene Dosage and Gene Duplicability [PDF]

Genetics, 2008
Abstract The evolutionary process leading to the fixation of newly duplicated genes is not well understood. It was recently proposed that the fixation of duplicate genes is frequently driven by positive selection for increased gene dosage (i.e., the gene dosage hypothesis), because haploinsufficient genes were reported to have more ...
Wenfeng, Qian, Jianzhi, Zhang
openaire   +2 more sources

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

Gene–Gene and Gene–Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy [PDF]

Clinical Journal of the American Society of Nephrology, 2014
Molecular genetics have revolutionized the understanding of susceptibility to the broad spectrum of kidney diseases with light microscopic appearance of FSGS, particularly in populations with recent African ancestry. These disorders include idiopathic FSGS, HIV-associated nephropathy, severe lupus nephritis, sickle cell nephropathy, and the primary ...
Barry I, Freedman, Karl, Skorecki
openaire   +2 more sources

StORF-Reporter: finding genes between genes

Nucleic Acids Research, 2022
Abstract Large regions of prokaryotic genomes are currently without any annotation, in part due to well-established limitations of annotation tools. For example, it is routine for genes using alternative start codons to be misreported or completely omitted.
Nicholas J Dimonaco, Amanda Clare, Kim Kenobi, Wayne Aubrey, Christopher J Creevey   +4 more
openaire   +4 more sources

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

Gut microbiota influence on lung cancer risk through blood metabolite mediation: from a comprehensive Mendelian randomization analysis and genetic analysis

Frontiers in Nutrition
BackgroundGut microbiota (GM) and metabolic alterations play pivotal roles in lung cancer (LC) development and host genetic variations are known to contribute to LC susceptibility by modulating the GM. However, the causal links among GM, metabolite, host
Yizhao Du, Qin Wang, Zongmei Zheng, Hailun Zhou, Yang Han, Ao Qi, Lijing Jiao, Lijing Jiao, Yabin Gong   +8 more
doaj   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report

Frontiers in Pediatrics
BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). Herein, we report a case of EKD in a patient with novel compound heterozygous TMPRSS15
Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang   +7 more
doaj   +1 more source