Results 161 to 170 of about 515,000 (271)

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Bioinformatic Analysis and Molecular Docking Identify Isorhamnetin Is a Candidate Compound in the Treatment of Pulmonary Artery Hypertension. [PDF]

Anatol J Cardiol
Shao C, Xia W, Liu Y.
europepmc   +1 more source

PPY‐Induced iCAFs Cultivate an Immunosuppressive Microenvironment in Pancreatic Cancer

Advanced Science, EarlyView.
Pancreatic ductal adenocarcinoma features abundant stromal components that hinder therapy efficacy. Single‐cell RNA sequencing analysis combined with experiments identified PPY, a gastrointestinal hormone, as a novel inducer of immunosuppressive iCAFs. Mechanistic studies revealed that PPY activates the non‐canonical NF‐κB pathway via EGFR.
Mengdie Cao, Wang Peng, Bin Cheng, Ronghua Wang, Wei Chen, Luyao Liu, Hai Huang, Shiru Chen, Haochen Cui, JingWen Liang, Qiaodan Zhou, Si Xiong, Shuya Bai, Luoxia Liu, Yuchong Zhao   +14 more
wiley   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

Evaluating the Nuclear Reaction Optimization (NRO) Algorithm for Gene Selection in Cancer Classification. [PDF]

Diagnostics (Basel)
Alkamli S, Alshamlan H.
europepmc   +1 more source

Extracellular Vesicle‐Packaged Linc‐ZNF25‐1 from Pancreatic Cancer Cell Promotes Pancreatic Stellate Cell Uptake of Asparagine to Advance Chemoresistance

Advanced Science, EarlyView.
This study explores the role of gemcitabine (GEM)‐resistant pancreatic cancer‐derived extracellular vesicles (EVs) in activating pancreatic stellate cells (PSCs) and promoting extracellular matrix production. GEM‐resistant cells release higher levels of asparagine (Asn), which triggers PSC activation. Long noncoding RNA sequencing identified linc‐ZNF25‐
Miao Yu, Mingxin Su, Zhenfeng Tian, Lele Pan, Zongmeng Li, Enlai Huang, Yinting Chen   +6 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Editorial: Current research on serological analyses of infectious diseases

Frontiers in Medicine, 2023
Eric William Rogier, Emanuele Giorgi, Kevin Tetteh, Nuno Sepúlveda, Nuno Sepúlveda   +4 more
doaj   +1 more source

IgG glycosylation profiling of systemic lupus erythematosus using lectin microarray. [PDF]

Lupus Sci Med
Wu Y, Wang M, Hu C, Zhang S, Zhao J, Wang Q, Xu D, Tian X, Zhao Y, Zeng X, Li M.   +10 more
europepmc   +1 more source

The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements

Nature Biotechnology, 2006
Maqc Consortium
semanticscholar   +1 more source