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Calr3

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https://www.readbyqxmd.com/read/26252478/lack-of-adam2-calr3-and-sage1-cancer-testis-antigen-expression-in-lung-and-breast-cancer
#1
Emeaga Maheswaran, Christina B Pedersen, Henrik J Ditzel, Morten F Gjerstorff
Immunotherapy is emerging as a supplement to conventional cancer treatment, and identifying antigen targets for specific types of cancer is critical to optimizing therapeutic efficacy. Cancer/testis antigens are highly promising targets for immunotherapy due to their cancer-specific expression and antigenic properties, but the expression patterns of most of the more than 200 identified cancer/testis antigens in various cancers remain largely uncharacterized. In this study, we investigated the expression of the cancer/testis antigens ADAM2, CALR3 and SAGE1 in lung and breast cancer, the two most frequent human cancers, with the purpose of providing novel therapeutic targets for these diseases...
2015: PloS One
https://www.readbyqxmd.com/read/22621904/mice-expressing-aberrant-sperm-specific-protein-pmis2-produce-normal-looking-but-fertilization-incompetent-spermatozoa
#2
Ryo Yamaguchi, Yoshitaka Fujihara, Masahito Ikawa, Masaru Okabe
Eight kinds of gene-disrupted mice (Clgn, Calr3, Pdilt, Tpst2, Ace, Adam1a, Adam2, and Adam3) show impaired sperm transition into the oviducts and defective sperm binding to the zona pellucida. All of these knockout strains are reported to lack or show aberrant expression of a disintegrin and metallopeptidase domain 3 (ADAM3) on the sperm membrane. We performed proteomic analyses of the proteins of these infertile spermatozoa to clarify whether the abnormal function is caused exclusively by a deficiency in ADAM3 expression...
July 2012: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/22515980/beyond-the-cardiac-myofilament-hypertrophic-cardiomyopathy-associated-mutations-in-genes-that-encode-calcium-handling-proteins
#3
A P Landstrom, M J Ackerman
Traditionally regarded as a genetic disease of the cardiac sarcomere, hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and a significant cause of sudden cardiac death. While the most common etiologies of this phenotypically diverse disease lie in a handful of genes encoding critical contractile myofilament proteins, approximately 50% of patients diagnosed with HCM worldwide do not host sarcomeric gene mutations. Recently, mutations in genes encoding calcium-sensitive and calcium-handling proteins have been implicated in the pathogenesis of HCM...
June 2012: Current Molecular Medicine
https://www.readbyqxmd.com/read/22357757/protein-disulfide-isomerase-homolog-pdilt-is-required-for-quality-control-of-sperm-membrane-protein-adam3-and-male-fertility-corrected
#4
Keizo Tokuhiro, Masahito Ikawa, Adam M Benham, Masaru Okabe
A disintegrin and metalloproteinase 3 (ADAM3) is a sperm membrane protein critical for both sperm migration from the uterus into the oviduct and sperm primary binding to the zona pellucida (ZP). Here we show that the testis-specific protein disulfide isomerase homolog (PDILT) cooperates with the testis-specific calreticulin-like chaperone, calsperin (CALR3), in the endoplasmic reticulum and plays an indispensable role in the disulfide-bond formation and folding of ADAM3. Pdilt(-/-) mice were male infertile because ADAM3 could not be folded properly and transported to the sperm surface without the PDILT/CALR3 complex...
March 6, 2012: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/21700002/a-de-novo-1-1mb-microdeletion-of-chromosome-19p13-11-provides-indirect-evidence-for-eps15l1-to-be-a-strong-candidate-for-split-hand-split-foot-malformation
#5
Susanne Bens, Andrea Haake, Holger Tönnies, Inga Vater, Ulrich Stephani, Paul-Martin Holterhus, Reiner Siebert, Almuth Caliebe
We describe a 3.5 year old girl presenting with short stature, developmental delay, marked muscular hypotonia with ataxia, premature pubarche, and dysmorphic features. A 1.07-1.12Mb-sized de novo microdeletion of chromosome 19p13.11 is most likely the cause for the clinical phenotype. The patient did not show any abnormalities of the extremities which contrasts with the finding of one previously reported patient with an overlapping deletion presenting with split hand and foot malformation (SHFM). The remarkable difference is that in the previously described patient but not in the patient reported herein the genes EPS15L1 and CALR3 were deleted...
September 2011: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/21131354/calsperin-is-a-testis-specific-chaperone-required-for-sperm-fertility
#6
Masahito Ikawa, Keizo Tokuhiro, Ryo Yamaguchi, Adam M Benham, Taku Tamura, Ikuo Wada, Yuhkoh Satouh, Naokazu Inoue, Masaru Okabe
Calnexin (CANX) and calreticulin (CALR) are homologous lectin chaperones located in the endoplasmic reticulum and cooperate to mediate nascent glycoprotein folding. In the testis, calmegin (CLGN) and calsperin (CALR3) are expressed as germ cell-specific counterparts of CANX and CALR, respectively. Here, we show that Calr3(-/-) males produced apparently normal sperm but were infertile because of defective sperm migration from the uterus into the oviduct and defective binding to the zona pellucida. Whereas CLGN was required for ADAM1A/ADAM2 dimerization and subsequent maturation of ADAM3, a sperm membrane protein required for fertilization, we show that CALR3 is a lectin-deficient chaperone directly required for ADAM3 maturation...
February 18, 2011: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/20966425/mechanisms-of-fertilization-a-view-from-the-study-of-gene-manipulated-mice
#7
REVIEW
Yuko Muro, Masaru Okabe
Recent gene knockout approaches have revealed that many of the factors previously considered to be important were largely dispensable in gene-knockout animals, and that previously unknown factors are emerging. Unexpectedly, sperm from 5 different gene-disrupted mouse lines (calmegin (Clgn), Adam1a, Adam2, Adam3, and Ace) all have defective zona-binding ability and oviduct-migrating ability. We have disrupted a new testis-specific molecular chaperone, calsperin (Calr3), which became the sixth gene sharing the same infertile phenotype...
May 2011: Journal of Andrology
https://www.readbyqxmd.com/read/17655857/genetic-screening-of-calcium-regulation-genes-in-familial-hypertrophic-cardiomyopathy
#8
Christine Chiu, Molly Tebo, Jodie Ingles, Laura Yeates, Jonathan W Arthur, Joanne M Lind, Christopher Semsarian
Genes encoding Ca(2+) regulatory proteins responsible for Ca(2+) homeostasis have been suggested as possible candidates for FHC. Mutations in sarcomere genes account for approximately 50% of all FHC cases indicating other genes, including those involved in Ca(2+) handling, may account for the remainder. The aim of this study was to identify causative mutations in genes involved in Ca(2+) regulation in patients with familial hypertrophic cardiomyopathy (FHC). An Australian cohort of 252 unrelated familial hypertrophic cardiomyopathy patients were screened for mutations in the Ca(2+) regulatory genes, sorcin (SRI), calstabin (FKBP1B), calsequestrin (CASQ2), phospholamban (PLN), sarcolipin (SLN), calreticulin (CALR3) and calmodulin (CALM)...
September 2007: Journal of Molecular and Cellular Cardiology
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