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https://www.readbyqxmd.com/read/26620927/a-novel-3q29-deletion-associated-with-autism-intellectual-disability-psychiatric-disorders-and-obesity
#1
Elisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni, Roberto Keller, Evelise Riberi, Marina Gandione, Alessandro Calcia, Cecilia Mancini, Elisa Giorgio, Simona Cavalieri, Patrizia Pappi, Flavia Talarico, Antonio M Fea, Silvia De Rubeis, Margherita Cirillo Silengo, Giovanni Battista Ferrero, Alfredo Brusco
Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD), autism spectrum disorder (ASD), and schizophrenia (SCZ). Often, individuals carrying the same pathogenic CNV display high clinical variability. By array-CGH analysis, we identified a novel familial 3q29 deletion (1.36 Mb), centromeric to the 3q29 deletion region, which manifests with variable expressivity. The deletion was identified in a 3-year-old girl diagnosed with ID/DD and autism and segregated in six family members, all affected by severe psychiatric disorders including schizophrenia, major depression, anxiety disorder, and personality disorder...
March 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/25852062/enhanced-gab2-expression-is-associated-with-improved-survival-in-high-grade-serous-ovarian-cancer-and-sensitivity-to-pi3k-inhibition
#2
Sally J Davis, Karen E Sheppard, Michael S Anglesio, Joshy George, Nadia Traficante, Sian Fereday, Maria P Intermaggio, Usha Menon, Aleksandra Gentry-Maharaj, Jan Lubinski, Jacek Gronwald, Celeste Leigh Pearce, Malcolm C Pike, Anna Wu, Stefan Kommoss, Jacobus Pfisterer, Andreas du Bois, Felix Hilpert, Susan J Ramus, David D L Bowtell, David G Huntsman, Richard B Pearson, Kaylene J Simpson, Ian G Campbell, Kylie L Gorringe
Identification of genomic alterations defining ovarian carcinoma subtypes may aid the stratification of patients to receive targeted therapies. We characterized high-grade serous ovarian carcinoma (HGSC) for the association of amplified and overexpressed genes with clinical outcome using gene expression data from 499 HGSC patients in the Ovarian Tumor Tissue Analysis cohort for 11 copy number amplified genes: ATP13A4, BMP8B, CACNA1C, CCNE1, DYRK1B, GAB2, PAK4, RAD21, TPX2, ZFP36, and URI. The Australian Ovarian Cancer Study and The Cancer Genome Atlas datasets were also used to assess the correlation between gene expression, patient survival, and tumor classification...
June 2015: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/24083349/whole-exome-sequencing-supports-genetic-heterogeneity-in-childhood-apraxia-of-speech
#3
Elizabeth A Worthey, Gordana Raca, Jennifer J Laffin, Brandon M Wilk, Jeremy M Harris, Kathy J Jakielski, David P Dimmock, Edythe A Strand, Lawrence D Shriberg
BACKGROUND: Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CAS...
2013: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/22738016/epileptic-encephalopathies-of-the-landau-kleffner-and-continuous-spike-and-waves-during-slow-wave-sleep-types-genomic-dissection-makes-the-link-with-autism
#4
MULTICENTER STUDY
Gaetan Lesca, Gabrielle Rudolf, Audrey Labalme, Edouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motte, Anne de Saint Martin, Maria-Paola Valenti, Clotilde Boulay, Julitta De Bellescize, Pascale Kéo-Kosal, Nadia Boutry-Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski
PURPOSE: The continuous spike and waves during slow-wave sleep syndrome (CSWSS) and the Landau-Kleffner (LKS) syndrome are two rare epileptic encephalopathies sharing common clinical features including seizures and regression. Both CSWSS and LKS can be associated with the electroencephalography pattern of electrical status epilepticus during slow-wave sleep and are part of a clinical continuum that at its benign end also includes rolandic epilepsy (RE) with centrotemporal spikes. The CSWSS and LKS patients can also have behavioral manifestations that overlap the spectrum of autism disorders (ASD)...
September 2012: Epilepsia
https://www.readbyqxmd.com/read/22207337/developmental-expression-of-p5-atpase-mrna-in-the-mouse
#5
Lisa S Weingarten, Hardi Dave, Hongyan Li, Dorota A Crawford
P(5) ATPases (ATP13A1 through ATP13A5) are found in all eukaryotes. They are currently poorly characterized and have unknown substrate specificity. Recent evidence has linked two P(5) ATPases to diseases of the nervous system, suggesting possible importance of these proteins within the nervous system. In this study we determined the relative expression of mouse P5 ATPases in development using quantitative real time PCR. We have shown that ATP13A1 and ATP13A2 were both expressed similarly during development, with the highest expression levels at the peak of neurogenesis...
March 2012: Cellular & Molecular Biology Letters
https://www.readbyqxmd.com/read/20147368/targeted-deletion-of-murine-cldn16-identifies-extra-and-intrarenal-compensatory-mechanisms-of-ca2-and-mg2-wasting
#6
Constanze Will, Tilman Breiderhoff, Julia Thumfart, Marchel Stuiver, Kathrin Kopplin, Kerstin Sommer, Dorothee Günzel, Uwe Querfeld, Iwan C Meij, Qixian Shan, Markus Bleich, Thomas E Willnow, Dominik Müller
Claudin-16 (CLDN16) is critical for renal paracellular epithelial transport of Ca(2+) and Mg(2+) in the thick ascending loop of Henle. To gain novel insights into the role of CLDN16 in renal Ca(2+) and Mg(2+) homeostasis and the pathological mechanisms underlying a human disease associated with CLDN16 dysfunction [familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), OMIM 248250], we generated a mouse model of CLDN16 deficiency. Similar to patients, CLDN16-deficient mice displayed hypercalciuria and hypomagnesemia...
May 2010: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/19731010/the-e646d-atp13a4-mutation-associated-with-autism-reveals-a-defect-in-calcium-regulation
#7
Janaki Vallipuram, Jeffrey Grenville, Dorota A Crawford
ATP13A4 is a member of the subfamily of P5-type ATPases. P5-type ATPases are the least studied of the P-type ATPase subfamilies with no ion specificities assigned to them. In order to elucidate ATP13A4 function, we studied the protein's subcellular localization and tested whether it is involved in calcium regulation. The intracellular calcium concentration was measured in COS-7 cells over-expressing mouse ATP13A4 using ratiometric calcium imaging with fura-2 AM as a calcium indicator. The results of this study show that ATP13A4 is localized to the endoplasmic reticulum (ER)...
March 2010: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/15925480/characterization-of-a-novel-cation-transporter-atpase-gene-atp13a4-interrupted-by-3q25-q29-inversion-in-an-individual-with-language-delay
#8
Dorota A Kwasnicka-Crawford, Andrew R Carson, Wendy Roberts, Anne M Summers, Karola Rehnström, Irma Järvelä, Stephen W Scherer
Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherited paracentric inversion of the long arm of chromosome 3 [46XX, inv(3)(q25.32-q29)] having clinically defined expressive and receptive language delay. Fluorescence in situ hybridization (FISH) with locus-specific bacterial artificial chromosome clones (BACs) as probes was used to characterize the inverted chromosome 3...
August 2005: Genomics
https://www.readbyqxmd.com/read/15381061/characterization-of-the-p5-subfamily-of-p-type-transport-atpases-in-mice
#9
COMPARATIVE STUDY
Patrick J Schultheis, Tamara T Hagen, Kate K O'Toole, Akiko Tachibana, Charles R Burke, Diana L McGill, Gbolahan W Okunade, Gary E Shull
In mammals, the most poorly understood P-type ATPases are those of the P(5) subfamily. To begin characterization of the mammalian P(5)-ATPases, BLAST searches of DNA sequence databases were performed. Five genes were identified in the mouse, human, dog, and rat genomes, and the coding sequences of the mouse genes, termed Atp13a1-Atp13a5, were determined. The intron/exon organization of Atp13a1 differs entirely from those of Atp13a2-5, which are closely related. Amino acid sequence comparisons between the five mouse and two yeast P(5)-ATPases suggest that Atp13a1 is orthologous to the yeast Cod1 gene and that Atp13a2-5 are orthologous to yeast Yor291w...
October 22, 2004: Biochemical and Biophysical Research Communications
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