Results 31 to 40 of about 212 (100)

Contribution of PGAP3 co‐amplified and co‐overexpressed with ERBB2 at 17q12 involved poor prognosis in gastric cancer

Journal of Cellular and Molecular Medicine, 2023
AbstractThe locus at 17q12 erb‐b2 receptor tyrosine kinase 2 (ERBB2) has been heavily amplificated and overexpressed in gastric cancer (GC), but it remains to be elucidated about the clinical significance of the co‐amplification and co‐overexpression of PGAP3 gene located around ERBB2 in GC.
Dong Wang, Siyu Hao, Hongjie He, Jian Zhang, Ge You, Xin Wu, Rui Zhang, Xiangning Meng, Xiaobo Cui, Jing Bai, Songbin Fu, Jingcui Yu   +11 more
openaire   +2 more sources

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review

Diagnostic Pathology, 2019
Background Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac ...
Layal Abi Farraj, Wassim Daoud Khatoun, Naji Abou Chebel, Victor Wakim, Katia Dawali, Michella Ghassibe-Sabbagh   +5 more
doaj   +1 more source

Implications of lipid moiety in oligomerization and immunoreactivities of GPI-anchored proteins

Journal of Lipid Research, 2013
Glycosylphosphatidylinositol (GPI) enriches GPI-anchored proteins (GPI-AP) in lipid rafts by intimate interaction of its lipid moiety with sphingolipids and cholesterol.
Jihyoun Seong, Yetao Wang, Taroh Kinoshita, Yusuke Maeda   +3 more
doaj   +1 more source

Genomic characterization between HER2‐positive and negative gastric cancer patients in a prospective trial

Cancer Medicine, 2023
Background We aimed to clarify the genomic characteristics of HER2‐positive and negative gastric cancer cases that potentially affect tumor progression and treatment response in a prospective trial.
Qingjiang Hu, Eiji Oki, Teppei Yamada, Tomomi Kashiwada, Hideto Sonoda, Masato Kataoka, Hirofumi Kawanaka, Yasushi Tsuji, Akitaka Makiyama, Yuichiro Nakashima, Mitsuhiko Ota, Yasue Kimura, Tomoharu Yoshizumi   +12 more
doaj   +1 more source

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

Molecular Genetics & Genomic Medicine, 2023
Background Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide.
Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee   +8 more
doaj   +1 more source

Hyperphosphatasia with mental retardation syndrome in South Africa: identifying a recurring PGAP3 variant [PDF]

, 2021
Thesis (MSc)--Stellenbosch University, 2021.ENGLISH ABSTRACT: Rare diseases (RDs) may individually be rare, but cumulatively affect up to 6% of the population. In Africa, research and diagnostics for RDs have not been prioritised. Therefore, most African
Bayley, Samantha Lee
core  

Clinical Relevance of Gastroesophageal Cancer Associated SNPs for Oncologic Outcome After Curative Surgery

, 2021
Background!#!Gastric and esophageal cancers are malignant diseases with rising importance in Western countries. To improve oncologic outcome after surgery, it is essential to understand the relevance of germline mutations.
Wirsik, Naita Maren, Hess, Timo, Peters, Leila, Jung, Jin-On, Nienhüser, Henrik, Schüller, Vitalia, Schumacher, Johannes, Schmidt, Thomas, Müller-Stich, Beat Peter, Timo Hess, Johannes Schumacher, Henrik Nienhüser, Thomas Schmidt, Naita Maren Wirsik, Vitalia Schüller, Jin-On Jung, Leila Peters, Beat Peter Müller-Stich   +17 more
core   +1 more source

PGAP3 as a Potential Biomarker Associated With Immune Infiltration in Clear Cell Renal Cell Carcinoma Based on Multi-Omics Analysis

Asian Journal of Surgery
Liangliang Dai, Chenjie Qiu
exaly   +2 more sources

A decade of research on the 17q12-21 asthma locus:Piecing together the puzzle [PDF]

, 2018
Chromosome 17q12-21 remains the most highly replicated and significant asthma locus. Genotypes in the core region defined by the first genome-wide association study correlate with expression of 2 genes, ORM1-like 3 (ORMDL3) and gasdermin B (GSDMB ...
Dan Nicolae, Carole Ober, Schoettler, Nathan, Klaus Bønnelykke, Stanhope, Catherine, Charles Washington, Nicolae, Dan, Ober, Carole, Washington, Charles, Britney A. Helling, Thompson, Emma E., Catherine Stanhope, Michelle M. Stein, Kevin M. Magnaye, Bønnelykke, Klaus, Stein, Michelle M., Nathan Schoettler, Emma E. Thompson, Andréanne Morin, Catherine Igartua, Igartua, Catherine, Morin, Andréanne, Helling, Britney A., Magnaye, Kevin M.   +23 more
core   +1 more source

Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population

Journal of Lipid Research, 2018
Abnormal blood lipid levels are influenced by genetic and lifestyle/dietary factors. Although many genetic variants associated with blood lipid traits have been identified in Europeans, similar data in Middle Eastern populations are limited. We performed
Prashantha Hebbar, Rasheeba Nizam, Motasem Melhem, Fadi Alkayal, Naser Elkum, Sumi Elsa John, Jaakko Tuomilehto, Osama Alsmadi, Thangavel Alphonse Thanaraj   +8 more
doaj   +1 more source