Results 41 to 50 of about 305,564 (250)

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source

Chromosome Duplication (14q) and The Genotype Phenotype Correlation [PDF]

International Journal of Fertility and Sterility, 2014
The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features.
Ariane Sadr-Nabavi, Morteza Saeidi
doaj  

A tractable genotype-phenotype map for the self-assembly of protein quaternary structure

, 2013
The mapping between biological genotypes and phenotypes is central to the study of biological evolution. Here we introduce a rich, intuitive, and biologically realistic genotype-phenotype (GP) map, that serves as a model of self-assembling biological ...
Ahnert, Sebastian E., Greenbury, Sam F., Johnston, Iain G., Louis, Ard A.   +3 more
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Fast and accurate imputation of summary statistics enhances evidence of functional enrichment

, 2013
Imputation using external reference panels is a widely used approach for increasing power in GWAS and meta-analysis. Existing HMM-based imputation approaches require individual-level genotypes.
Bhatia, Gaurav, Gusev, Alexander, Hirschhorn, Joel, Pasaniuc, Bogdan, Patterson, Nick, Pickrell, Joseph, Price, Alkes L., Shi, Huwenbo, Strachan, David P, Zaitlen, Noah   +9 more
core   +2 more sources

Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis [PDF]

, 2005
BACKGROUND AND AIMS: The MDR1 gene encodes P-glycoprotein 170, an efflux transporter that is highly expressed in intestinal epithelial cells. The MDR1 exonic single nucleotide polymorphisms (SNPs) C3435T and G2677T have been shown to correlate with ...
Arnott, Ian D, Drummond, Hazel, Fennell, Janice, Ho, Gwo-Tzer, Mowat, Craig, Nimmo, Elaine R, Satsangi, Jack, Tenesa, Albert   +7 more
core   +1 more source

Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin

Molecular Oncology, EarlyView.
The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla, Jan Kosla, Magdalena Prechova, Lukas Frick, Patricia Bortel, Yasmin Borutzki, Andrea Bileck, Christopher Gerner, Samuel M. Meier‐Menches, Selma Osmanagic‐Myers, Martin Gregor   +10 more
wiley   +1 more source

Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

npj Parkinson's Disease
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)   +53 more
doaj   +1 more source

MLPH Genotype—Melanin Phenotype Correlation in Dilute Dogs [PDF]

, 2017
Coat color dilution in dogs is a specific pigmentation phenotype caused by a defective transport of melanosomes leading to large clumps of pigment. It is inherited as a Mendelian autosomal recessive trait and may be accompanied by hair loss, the so ...
Brenig, B., Drögemüller, C., Drögemüller, M., Grest, P., Haase, B., Leeb, T., Linek, M., Mecklenburg, L., Philipp, U., Roosje, P., Rüfenacht, S., Scharfenstein, M., Schütz, E., Welle, M.   +13 more
core  

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source