Results 41 to 50 of about 1,290,197 (259)

Multi-ancestry genome-wide association study in all of Us for primary open-angle glaucoma

Scientific Reports
This study aims to identify new genetic loci associated with primary open-angle glaucoma (POAG) and explore shared genetic risk factors across African, European, and Admixed American/Latino populations. Genome-wide Association Study (GWAS) utilizing data
Kiana Tavakoli, Bonnie B. Huang, Tara Mirmira, Nichole Ma, Robert N. Weinreb, Sally L. Baxter   +5 more
doaj   +1 more source

Distribution of RET proto‐oncogene variants in children with appendicitis

Molecular Genetics & Genomic Medicine, 2022
Background In addition to patient‐related systemic factors directing the immune response, the pathomechanisms of appendicitis (AP) might also include insufficient drainage leading to inflammation caused by decreased peristalsis.
Jurek Schultz, Ines Freibothe, Michael Haase, Patrick Glatte, Gustavo Barreton, Andreas Ziegler, Heike Görgens, Guido Fitze   +7 more
doaj   +1 more source

Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population

Biomedical Papers, 2017
Background: Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors.
Jan Salagovic, Lucia Klimcakova, Marianna Zabavnikova, Jana Behunova, Terezia Hudakova, Jozef Fedeles, Agata Molnarova, Ludmila Podracka   +7 more
doaj   +1 more source

Characterizing the mechanism behind the progression of NAFLD to hepatocellular carcinoma

Hepatic Oncology, 2020
Hepatocellular carcinoma (HCC) developed in non-alcoholic fatty liver disease (NAFLD) individuals presents substantial clinical and biological characteristics, which remain to be elucidated. Its occurrence in noncirrhotic patients raises issues regarding
Pierre Nahon, Manon Allaire, Jean-Charles Nault, Valérie Paradis   +3 more
doaj   +1 more source

Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing

Frontiers in Genetics, 2023
Determining genotype–phenotype correlations in patients with hypodontia is important for understanding disease pathogenesis, although only a few studies have elucidated it.
Shinyeop Lee, Hyunsoo Ahn, Hyeonhye Kim, Kwanghwan Lee, Sanguk Kim, Sanguk Kim, Jae Hoon Lee   +6 more
doaj   +1 more source

Exploration of the Genetic Basis of GVHD by Genetic Association Studies

Biology of Blood and Marrow Transplantation, 2009
Graft-versus-host disease (GVHD), as well as graft-versus-leukemia effect (GVL), are essentially allo-immune reactions, which are induced by the engrafted donor T cells that recognize the host-derived allo-antigens presented on their targets (Figure 1). In HLA-matched transplantation, these antigens are called minor histocompatibility antigens (mHags),
Ogawa, Seishi, Matsubara, Aiko, Onizuka, Makoto, Kashiwase, Koichi, Sanada, Masashi, Kato, Motohiro, Nannya, Yasuhito, Akatsuka, Yoshiki, Satake, Masahiro, Takita, Junko, Chiba, Shigeru, Saji, Hiroo, Maruya, Etsuko, Inoko, Hidetoshi, Morishima, Yasuo, Kodera, Yoshihisa, Takehiko, Sasazuki   +16 more
openaire   +2 more sources

Are Fertility Preservation Procedures Before Gonadotoxic Therapy and Hematopoietic Stem Cell Transplantation Feasible and Safe in Very Young Children? A Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian, Yannick Braun, Till‐Martin Theilen, Anke Barnbrock, Theresa Rohm, Fabienne Hammant, Nicole Sänger, Aynura Abbasova‐Semiz, Jan‐Henning Klusmann, Thomas Klingebiel, Udo Rolle, Peter Bader, Henning C. Fiegel, Andrea Jarisch   +13 more
wiley   +1 more source

Rare Variant Modify Contribution of Common Genetic and Lifestyle Factors toward Type 2 Diabetes Mellitus [PDF]

Diabetes & Metabolism Journal
Background This study aimed to investigate the modifying effects of rare genetic variants on the risk of type 2 diabetes mellitus (T2DM) in the context of common genetic and lifestyle factors.
Hye-Mi Jang, Mi Yeong Hwang, Yi Seul Park, Bong-Jo Kim, Young Jin Kim   +4 more
doaj   +1 more source

Genetic association studies in complex diseases [PDF]

Journal of Human Hypertension, 2000
Genetic association studies are the most frequent type of study performed in the investigation of the genetic basis of complex cardiovascular conditions. While relatively easy to perform, and having previously correctly identified genetic effects subsequently proven to be due to genetic linkage, interpretation of the results of these studies is not ...
openaire   +3 more sources

A comprehensive review of genetic association studies [PDF]

Genetics in Medicine, 2002
Most common diseases are complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. It has been proposed that common genetic variants, including single nucleotide polymorphisms (SNPs), influence susceptibility to common disease.
Joel N, Hirschhorn, Kirk, Lohmueller, Edward, Byrne, Kurt, Hirschhorn   +3 more
openaire   +2 more sources