Anti-NADK (Aa 374-423) Polyclonal Antibody (DPABH-23571) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use

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Anti-NADK (aa 374-423) polyclonal antibody (DPABH-23571) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Antigen Description NADK (NAD kinase) is a protein-coding gene. Diseases associated with NADK include dental caries , and tuberculosis , and among its related super-pathways are NAD metabolism and Metabolic pathways. GO annotations related to this gene include NAD+ kinase activity and metal ion binding. Immunogen Synthetic peptide corresponding to a region within C terminal amino acids 374-423 (ARNTAWVSFD GRKRQEIRHG DSISITTSCY PLPSICVRDP VSDWFESLAQ) of Human PPNK (NP_001185924) Isotype IgG Source/Host Rabbit Species Reactivity Human Purification Immunogen affinity purified Conjugate Unconjugated Applications WB Format Liquid Size 50 μl Buffer Constituents: 98% PBS, 2% Sucrose Preservative None Storage Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles. GENE INFORMATION Gene Name NADK NAD kinase [ Homo sapiens ] Official Symbol NADK Synonyms NADK; NAD kinase; dJ283E3.1; poly(P)/ATP NAD kinase; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved Entrez Gene ID 65220 Protein Refseq NP_001185922.1 UniProt ID A0A024R058 Pathway Defective AMN causes hereditary megaloblastic anemia 1; Defective CD320 causes methylmalonic aciduria; Defective GIF causes intrinsic factor deficiency; Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Function ATP binding; NAD+ kinase activity; NAD+ kinase activity; metal ion binding 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 2 © Creative Diagnostics All Rights Reserved.

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Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2012 Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism Coelho, David ; Kim, Jaeseung C ; Miousse, Isabelle R ; Fung, Stephen ; du Moulin, Marcel ; Buers, Insa ; Suormala, Terttu ; Burda, Patricie ; Frapolli, Michele ; Stucki, Martin ; Nürnberg, Peter ; Thiele, Holger ; Robenek, Horst ; Höhne, Wolfgang ; Longo, Nicola ; Pasquali, Marzia ; Mengel, Eugen ; Watkins, David ; Shoubridge, Eric A ; Majewski, Jacek ; Rosenblatt, David S ; Fowler, Brian ; Rutsch, Frank ; Baumgartner, Matthias R Abstract: Inherited disorders of vitamin B(12) (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B(12) from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we identified causal mutations in ABCD4, a gene that codes for an ABC transporter, which was previously thought to have peroxisomal localization and function. Our results show that ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD1, the latter of which is deficient in the cblF defect. Furthermore, we show that mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B(12).
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Germline Mutations Causing Familial Lung Cancer
Journal of Human Genetics (2015) 60, 597–603 & 2015 The Japan Society of Human Genetics All rights reserved 1434-5161/15 www.nature.com/jhg ORIGINAL ARTICLE Germline mutations causing familial lung cancer Koichi Tomoshige1,2, Keitaro Matsumoto1, Tomoshi Tsuchiya1, Masahiro Oikawa1, Takuro Miyazaki1, Naoya Yamasaki1, Hiroyuki Mishima2, Akira Kinoshita2, Toru Kubo3, Kiyoyasu Fukushima3, Koh-ichiro Yoshiura2 and Takeshi Nagayasu1 Genetic factors are important in lung cancer, but as most lung cancers are sporadic, little is known about inherited genetic factors. We identiﬁed a three-generation family with suspected autosomal dominant inherited lung cancer susceptibility. Sixteen individuals in the family had lung cancer. To identify the gene(s) that cause lung cancer in this pedigree, we extracted DNA from the peripheral blood of three individuals and from the blood of one cancer-free control family member and performed whole-exome sequencing. We identiﬁed 41 alterations in 40 genes in all affected family members but not in the unaffected member. These were considered candidate mutations for familial lung cancer. Next, to identify somatic mutations and/or inherited alterations in these 40 genes among sporadic lung cancers, we performed exon target enrichment sequencing using 192 samples from sporadic lung cancer patients. We detected somatic ‘candidate’ mutations in multiple sporadic lung cancer samples; MAST1, CENPE, CACNB2 and LCT were the most promising candidate genes. In addition, the MAST1 gene was located in a putative cancer-linked locus in the pedigree. Our data suggest that several genes act as oncogenic drivers in this family, and that MAST1 is most likely to cause lung cancer.
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Volume XXI, No. 6 JUNE 2021 MONTHLY TEST UPDATES Diagnostics Update New Tests 2 Test Updates 4 CPT Code Updates 11 Deleted Tests 11 Diagnostics Update Volume XXI, No. 6 | JUNE 2021 New Tests Use Anti-DFS70 antibodies may help identify individuals who do not have an Anti-Carbamylated Protein (CarP) Antibody 520311 ANA-associated Autoimmune Rheumatic Disease (AARD) especially in the absence of significant clinical findings.1 Anti-DFS70 Ab, especially when positive CPT 83516 in isolation (i.e. in the absence of AARD-associated autoantibodies), may Synonyms Anti-CarP antigen antibody; RA marker prevent unnecessary referrals and examinations of ANA-positive individuals.2 Special Instructions This test has not been approved for NY state clients. Limitations This test should be used with clinical findings and other Specimen Serum autoimmune testing; it cannot be used alone to rule out autoimmune disease. Volume 1 mL This test was developed and its performance characteristics determined Minimum Volume 0.5 mL by Labcorp. It has not been cleared or approved by the Food and Drug Container Red-top tube; serum from red-top tube; serum from a gel tube; or Administration. serum gel tube Methodology Enzyme-linked immunosorbent assay (ELISA) Collection Separate serum from cells within one hour of collection. Transfer to a Additional Information Anti-DFS70 antibodies target the dense fine speckled plastic transport tube before shipping. protein of 70 kDa which is identical to Lens Epithelium-Derived Growth Factor Storage Instructions Refrigerate or freeze. or transcription co-activator p75 (LEDGFp75). They are detectable in 2% to 22% Stability of healthy individuals and in less than 1% of patients with AARD are of unknown Temperature Period clinical significance.
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An Update on Vitamin B12-Related Gene Polymorphisms and B12 Status
An update on vitamin B12-related gene polymorphisms and B12 status. Article Published Version Creative Commons: Attribution 4.0 (CC-BY) Open Access Surendran, S., Adaikalakoteswari, A., Saravanan, P., Shatwaan, I. A., Lovegrove, J. A. and Vimaleswaran, K. S. (2018) An update on vitamin B12-related gene polymorphisms and B12 status. Genes & Nutrition, 13 (1). pp. 1555-8932. ISSN 1865-3499 doi: https://doi.org/10.1186/s12263-018- 0591-9 Available at http://centaur.reading.ac.uk/75711/ It is advisable to refer to the publisher’s version if you intend to cite from the work. See Guidance on citing . To link to this article DOI: http://dx.doi.org/10.1186/s12263-018-0591-9 Publisher: Springer All outputs in CentAUR are protected by Intellectual Property Rights law, including copyright law. Copyright and IPR is retained by the creators or other copyright holders. Terms and conditions for use of this material are defined in the End User Agreement . www.reading.ac.uk/centaur CentAUR Central Archive at the University of Reading Reading’s research outputs online Surendran et al. Genes & Nutrition (2018) 13:2 DOI 10.1186/s12263-018-0591-9 REVIEW Open Access An update on vitamin B12-related gene polymorphisms and B12 status S. Surendran1, A. Adaikalakoteswari2,3, P. Saravanan2,3, I. A. Shatwaan1, J. A. Lovegrove1 and K. S. Vimaleswaran1* Abstract Background: Vitamin B12 is an essential micronutrient in humans needed for health maintenance. Deficiency of vitamin B12 has been linked to dietary, environmental and genetic factors. Evidence for the genetic basis of vitamin B12 status is poorly understood.
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Human Induced Pluripotent Stem Cell–Derived Podocytes Mature Into Vascularized Glomeruli Upon Experimental Transplantation
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Downloaded from the App Store and Nucleobase, Nucleotide and Nucleic Acid Metabolism 7 Google Play
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Genetic Analysis of 400 Patients Refines Understanding And
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