Results 31 to 40 of about 5,291,226 (319)

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim, Bruce Crooks, Hyoung Jin Kang, Kyung Taek Hong, Jung Yoon Choi, Hye Ra Jung, Chang Ahn Seol, Rinu Mathew, Yigal Dror   +8 more
wiley   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases

Molecular Genetics & Genomic Medicine, 2020
Background Glycogen storage disease (GSD) is a relatively rare inborn metabolic disorder, our study aims to investigate the genotypic and clinical feature of hepatic GSDs in China.
Yan Liang, Caiqi Du, Hong Wei, Cai Zhang, Min Zhang, Minghui Hu, Feng Fang, Xiaoping Luo   +7 more
doaj   +1 more source

A computational method for large-scale identification of esophageal cancer-related genes

Frontiers in Oncology, 2022
The incidence of esophageal cancer has obvious genetic susceptibility. Identifying esophageal cancer-related genes plays a huge role in the prevention and treatment of esophageal cancer.
Xin He, Wei-Song Li, Zhen-Gang Qiu, Lei Zhang, He-Ming Long, Gui-Sheng Zhang, Yang-Wen Huang, Yun-mei Zhan, Fan Meng   +8 more
doaj   +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

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

Changing the phenotypes − Epigenetics in ayurveda

Journal of Ayurveda, 2023
Objective: The primary objective is to elaborate the various concepts concerning genetics and epigenetics in Ayurveda. Data Source: The classical Ayurveda texts, along with the commentaries and peer-reviewed articles, were referred.
Priyanka Bhardwaj, Pooja Sabharwal
doaj   +1 more source

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark, Alexander Renwick, Yao Yu, Aniko Sabo, Andrew F. Olshan, Sharon E. Plon, Chad D. Huff, Philip J. Lupo   +7 more
wiley   +1 more source