Anti-VPS37A Monoclonal Antibody (DCABH-17386) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use

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Anti-VPS37A monoclonal antibody (DCABH-17386) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Antigen Description VPS37A, vacuolar protein sorting 37A, is a component of the ESCRT-I complex, a regulator of vesicular trafficking process. It is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies and may be involved in cell growth and differentiation. Immunogen A synthetic peptide of human VPS37A is used for rabbit immunization. Isotype IgG Source/Host Rabbit Species Reactivity Human Purification Protein A Conjugate Unconjugated Applications Western Blot (Transfected lysate); ELISA Size 1 ea Buffer In 1x PBS, pH 7.4 Preservative None Storage Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing. GENE INFORMATION Gene Name VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) [ Homo sapiens ] Official Symbol VPS37A Synonyms VPS37A; vacuolar protein sorting 37 homolog A (S. cerevisiae); polyglutamine binding protein 2 , PQBP2, vacuolar protein sorting 37A (yeast); vacuolar protein sorting-associated protein 37A; FLJ32642; HCRP1; hepatocellular carcinoma related protein 1; hVps37A; vacuolar protein sorting 37A; ESCRT-I complex subunit VPS37A; polyglutamine binding protein 2; hepatocellular carcinoma-related protein 1; PQBP2; FLJ42616; Entrez Gene ID 137492 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 Protein Refseq NP_001138624 UniProt ID Q8NEZ2 Chromosome Location 8p22 Pathway Assembly of HIV virion, organism-specific biosystem; Disease, organism-specific biosystem; ESCRT-I complex, organism-specific biosystem; Endocytosis, organism-specific biosystem; Endocytosis, conserved biosystem; Endosomal Sorting Complex Required For Tra. 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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PLATFORM ABSTRACTS Abstract Abstract Numbers Numbers Tuesday, November 6 41
American Society of Human Genetics 62nd Annual Meeting November 6–10, 2012 San Francisco, California PLATFORM ABSTRACTS Abstract Abstract Numbers Numbers Tuesday, November 6 41. Genes Underlying Neurological Disease Room 134 #196–#204 2. 4:30–6:30pm: Plenary Abstract 42. Cancer Genetics III: Common Presentations Hall D #1–#6 Variants Ballroom 104 #205–#213 43. Genetics of Craniofacial and Wednesday, November 7 Musculoskeletal Disorders Room 124 #214–#222 10:30am–12:45 pm: Concurrent Platform Session A (11–19): 44. Tools for Phenotype Analysis Room 132 #223–#231 11. Genetics of Autism Spectrum 45. Therapy of Genetic Disorders Room 130 #232–#240 Disorders Hall D #7–#15 46. Pharmacogenetics: From Discovery 12. New Methods for Big Data Ballroom 103 #16–#24 to Implementation Room 123 #241–#249 13. Cancer Genetics I: Rare Variants Room 135 #25–#33 14. Quantitation and Measurement of Friday, November 9 Regulatory Oversight by the Cell Room 134 #34–#42 8:00am–10:15am: Concurrent Platform Session D (47–55): 15. New Loci for Obesity, Diabetes, and 47. Structural and Regulatory Genomic Related Traits Ballroom 104 #43–#51 Variation Hall D #250–#258 16. Neuromuscular Disease and 48. Neuropsychiatric Disorders Ballroom 103 #259–#267 Deafness Room 124 #52–#60 49. Common Variants, Rare Variants, 17. Chromosomes and Disease Room 132 #61–#69 and Everything in-Between Room 135 #268–#276 18. Prenatal and Perinatal Genetics Room 130 #70–#78 50. Population Genetics Genome-Wide Room 134 #277–#285 19. Vascular and Congenital Heart 51. Endless Forms Most Beautiful: Disease Room 123 #79–#87 Variant Discovery in Genomic Data Ballroom 104 #286–#294 52.
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Why Cells and Viruses Cannot Survive Without an ESCRT
cells Review Why Cells and Viruses Cannot Survive without an ESCRT Arianna Calistri * , Alberto Reale, Giorgio Palù and Cristina Parolin Department of Molecular Medicine, University of Padua, 35121 Padua, Italy; [email protected] (A.R.); [email protected] (G.P.); [email protected] (C.P.) * Correspondence: [email protected] Abstract: Intracellular organelles enwrapped in membranes along with a complex network of vesicles trafﬁcking in, out and inside the cellular environment are one of the main features of eukaryotic cells. Given their central role in cell life, compartmentalization and mechanisms allowing their maintenance despite continuous crosstalk among different organelles have been deeply investigated over the past years. Here, we review the multiple functions exerted by the endosomal sorting complex required for transport (ESCRT) machinery in driving membrane remodeling and ﬁssion, as well as in repairing physiological and pathological membrane damages. In this way, ESCRT machinery enables different fundamental cellular processes, such as cell cytokinesis, biogenesis of organelles and vesicles, maintenance of nuclear–cytoplasmic compartmentalization, endolysosomal activity. Furthermore, we discuss some examples of how viruses, as obligate intracellular parasites, have evolved to hijack the ESCRT machinery or part of it to execute/optimize their replication cycle/infection. A special emphasis is given to the herpes simplex virus type 1 (HSV-1) interaction with the ESCRT proteins, considering the peculiarities of this interplay and the need for HSV-1 to cross both the nuclear-cytoplasmic and the cytoplasmic-extracellular environment compartmentalization to egress from infected cells. Citation: Calistri, A.; Reale, A.; Palù, Keywords: ESCRT; viruses; cellular membranes; extracellular vesicles; HSV-1 G.; Parolin, C.
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Hereditary Spastic Paraplegia: from Genes, Cells and Networks to Novel Pathways for Drug Discovery
brain sciences Review Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery Alan Mackay-Sim Griffith Institute for Drug Discovery, Griffith University, Brisbane, QLD 4111, Australia; a.mackay-sim@griffith.edu.au Abstract: Hereditary spastic paraplegia (HSP) is a diverse group of Mendelian genetic disorders affect- ing the upper motor neurons, specifically degeneration of their distal axons in the corticospinal tract. Currently, there are 80 genes or genomic loci (genomic regions for which the causative gene has not been identified) associated with HSP diagnosis. HSP is therefore genetically very heterogeneous. Finding treatments for the HSPs is a daunting task: a rare disease made rarer by so many causative genes and many potential mutations in those genes in individual patients. Personalized medicine through genetic correction may be possible, but impractical as a generalized treatment strategy. The ideal treatments would be small molecules that are effective for people with different causative mutations. This requires identification of disease-associated cell dysfunctions shared across geno- types despite the large number of HSP genes that suggest a wide diversity of molecular and cellular mechanisms. This review highlights the shared dysfunctional phenotypes in patient-derived cells from patients with different causative mutations and uses bioinformatic analyses of the HSP genes to identify novel cell functions as potential targets for future drug treatments for multiple genotypes. Keywords: neurodegeneration; motor neuron disease; spastic paraplegia; endoplasmic reticulum; Citation: Mackay-Sim, A. Hereditary protein-protein interaction network Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery. Brain Sci. 2021, 11, 403.
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Anti-VPS37A (Aa 202-389) Polyclonal Antibody (DPABH-12281) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use
Anti-VPS37A (aa 202-389) polyclonal antibody (DPABH-12281) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Antigen Description VPS37A, vacuolar protein sorting 37A, is a component of the ESCRT-I complex, a regulator of vesicular trafficking process. It is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies and may be involved in cell growth and differentiation. Immunogen Recombinant fragment corresponding to Human VPS37A aa 202-389. (BC067754).Sequence: LPLPIPTVD ASIPTSQNGF GYKMPDVPDA FPELSELSVS QLTDMNEQEE VLLEQFLTLP QLKQIITDKD DLVKSIEELA RKNLLLEPSL EAKRQTVLDK YELLTQMKST FEKKMQRQHE LSESCSASAL QARLKVAAHE AEEESDNIAE DFLEGKM Isotype IgG Source/Host Rabbit Species Reactivity Human Purification Immunogen affinity purified Conjugate Unconjugated Applications IHC-P, WB Format Liquid Size 100 μg Buffer pH: 7.20; Constituents: 98% PBS, 1% BSA Preservative 0.02% Sodium Azide Storage Shipped at 4°C. Store at 4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle. GENE INFORMATION Gene Name VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) [ Homo sapiens ] Official Symbol VPS37A 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 Synonyms VPS37A; vacuolar protein sorting 37 homolog A (S. cerevisiae); polyglutamine binding protein 2; PQBP2, vacuolar protein sorting 37A (yeast); vacuolar protein sorting-associated
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Downloaded Per Proteome Cohort Via the Web- Site Links of Table 1, Also Providing Information on the Deposited Spectral Datasets
www.nature.com/scientificreports OPEN Assessment of a complete and classifed platelet proteome from genome‑wide transcripts of human platelets and megakaryocytes covering platelet functions Jingnan Huang1,2*, Frauke Swieringa1,2,9, Fiorella A. Solari2,9, Isabella Provenzale1, Luigi Grassi3, Ilaria De Simone1, Constance C. F. M. J. Baaten1,4, Rachel Cavill5, Albert Sickmann2,6,7,9, Mattia Frontini3,8,9 & Johan W. M. Heemskerk1,9* Novel platelet and megakaryocyte transcriptome analysis allows prediction of the full or theoretical proteome of a representative human platelet. Here, we integrated the established platelet proteomes from six cohorts of healthy subjects, encompassing 5.2 k proteins, with two novel genome‑wide transcriptomes (57.8 k mRNAs). For 14.8 k protein‑coding transcripts, we assigned the proteins to 21 UniProt‑based classes, based on their preferential intracellular localization and presumed function. This classifed transcriptome‑proteome profle of platelets revealed: (i) Absence of 37.2 k genome‑ wide transcripts. (ii) High quantitative similarity of platelet and megakaryocyte transcriptomes (R = 0.75) for 14.8 k protein‑coding genes, but not for 3.8 k RNA genes or 1.9 k pseudogenes (R = 0.43–0.54), suggesting redistribution of mRNAs upon platelet shedding from megakaryocytes. (iii) Copy numbers of 3.5 k proteins that were restricted in size by the corresponding transcript levels (iv) Near complete coverage of identifed proteins in the relevant transcriptome (log2fpkm > 0.20) except for plasma‑derived secretory proteins, pointing to adhesion and uptake of such proteins. (v) Underrepresentation in the identifed proteome of nuclear‑related, membrane and signaling proteins, as well proteins with low‑level transcripts.
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Hereditary Spastic Paraplegias: Clinical Spectrum in Sudan, Further Deciphering of the Molecular Bases of Autosomal Recessive Forms and New Genes Emerging
Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging Liena Elbaghir Omer Elsayed To cite this version: Liena Elbaghir Omer Elsayed. Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging. Neurons and Cognition [q-bio.NC]. Université Pierre et Marie Curie - Paris VI; University of Khartoum, 2016. English. NNT : 2016PA066056. tel-01438739 HAL Id: tel-01438739 https://tel.archives-ouvertes.fr/tel-01438739 Submitted on 18 Jan 2017 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Université Pierre et Marie Curie University of Khartoum Cerveau-Cognition-Comportement (ED3C) Institut du Cerveau et de la Moelle Epinière / Equipe Bases Moléculaires, Physiopathologie Et Traitement Des Maladies Neurodégénératives Hereditary spastic paraplegias: clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging
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Clinical and Genomic Characterization of 8P Cytogenomic Disorders
www.nature.com/gim ARTICLE Clinical and genomic characterization of 8p cytogenomic disorders ✉ Volkan Okur 1,2, Laura Hamm1, Haluk Kavus1, Caroline Mebane1, Scott Robinson1, Brynn Levy3 and Wendy K. Chung1,4 PURPOSE: To provide a detailed clinical and cytogenomic summary of individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p). METHODS: We enrolled 97 individuals with invdupdel(8p), del(8p), and dup(8p). Clinical and molecular data were collected to delineate and compare the clinical findings and rearrangement breakpoints. We included additional 5 individuals with dup(8p) from the literature for a total of 102 individuals. RESULTS: Eighty-one individuals had recurrent rearrangements of invdupdel(8p) (n = 49), del(8p)_distal (n = 4), del(8p)_proximal (n = 9), del(8p)_proximal&distal (n = 12), and dup(8p)_proximal (n = 7). Twenty-one individuals had nonrecurrent rearrangements. While all individuals had neurodevelopmental features, the frequency and severity of clinical findings were higher in individuals with invdupdel(8p), and with larger duplications. All individuals with GATA4 deletion had structural congenital heart defects; however, the presence of structural heart defects in some individuals with normal GATA4 copy number suggests there are other potentially contributing gene(s) on 8p. CONCLUSION: Our study may inform families and health-care providers about the associated clinical findings and severity in individuals with chromosome 8p rearrangements, and guide researchers in investigating the underlying
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Supplementary Table 1 Double Treatment Vs Single Treatment
Supplementary table 1 Double treatment vs single treatment Probe ID Symbol Gene name P value Fold change TC0500007292.hg.1 NIM1K NIM1 serine/threonine protein kinase 1.05E-04 5.02 HTA2-neg-47424007_st NA NA 3.44E-03 4.11 HTA2-pos-3475282_st NA NA 3.30E-03 3.24 TC0X00007013.hg.1 MPC1L mitochondrial pyruvate carrier 1-like 5.22E-03 3.21 TC0200010447.hg.1 CASP8 caspase 8, apoptosis-related cysteine peptidase 3.54E-03 2.46 TC0400008390.hg.1 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 1.86E-03 2.41 TC1700011905.hg.1 DNAH17 dynein, axonemal, heavy chain 17 1.81E-04 2.40 TC0600012064.hg.1 GCM1 glial cells missing homolog 1 (Drosophila) 2.81E-03 2.39 TC0100015789.hg.1 POGZ Transcript Identified by AceView, Entrez Gene ID(s) 23126 3.64E-04 2.38 TC1300010039.hg.1 NEK5 NIMA-related kinase 5 3.39E-03 2.36 TC0900008222.hg.1 STX17 syntaxin 17 1.08E-03 2.29 TC1700012355.hg.1 KRBA2 KRAB-A domain containing 2 5.98E-03 2.28 HTA2-neg-47424044_st NA NA 5.94E-03 2.24 HTA2-neg-47424360_st NA NA 2.12E-03 2.22 TC0800010802.hg.1 C8orf89 chromosome 8 open reading frame 89 6.51E-04 2.20 TC1500010745.hg.1 POLR2M polymerase (RNA) II (DNA directed) polypeptide M 5.19E-03 2.20 TC1500007409.hg.1 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type 6.48E-03 2.17 TC2200007132.hg.1 RFPL3 ret finger protein-like 3 5.91E-05 2.17 HTA2-neg-47424024_st NA NA 2.45E-03 2.16 TC0200010474.hg.1 KIAA2012 KIAA2012 5.20E-03 2.16 TC1100007216.hg.1 PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 7.43E-03 2.15 TC0400012977.hg.1 SH3D19
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Transcriptome Analysis of Peripheral Whole Blood Identifies Crucial
Zheng et al. BMC Medical Genomics (2020) 13:136 https://doi.org/10.1186/s12920-020-00785-y RESEARCH ARTICLE Open Access Transcriptome analysis of peripheral whole blood identifies crucial lncRNAs implicated in childhood asthma Peiyan Zheng1†, Chen Huang2†, Dongliang Leng2, Baoqing Sun1* and Xiaohua Douglas Zhang2,3* Abstract Background: Asthma is a chronic disorder of both adults and children affecting more than 300 million people heath worldwide. Diagnose and treatment for asthma, particularly in childhood asthma have always remained a great challenge because of its complex pathogenesis and multiple triggers, such as allergen, viral infection, tobacco smoke, dust, etc. It is thereby great significant to deeply investigate the transcriptome changes in asthmatic children before and after desensitization treatment, in order that we could identify potential and key mRNAs and lncRNAs which might be considered as useful RNA molecules for observing and supervising desensitization therapy for asthma, which might guide the diagnose and therapy in childhood asthma. Methods: In the present study, we performed a systematic transcriptome analysis based on the deep RNA sequencing of ten asthmatic children before and after desensitization treatment, including identification of lncRNAs using a stringent filtering pipeline, differential expression analysis and network analysis, etc. Results: First, a large number of lncRNAs were identified and characterized. Then differential expression analysis revealed 39 mRNAs and 15 lncRNAs significantly differentially expressed which involved in two biological processes and pathways. A co-expressed network analysis figured out a desensitization-treatment-related module which contains 27 mRNAs and 21 lncRNAs using WGCNA R package. Module analysis disclosed 17 genes associated to asthma at distinct level.
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The Vacuolar Protein Sorting Genes in Insects: a Comparative Genome View
Insect Biochemistry and Molecular Biology 62 (2015) 211e225 Contents lists available at ScienceDirect Insect Biochemistry and Molecular Biology journal homepage: www.elsevier.com/locate/ibmb The vacuolar protein sorting genes in insects: A comparative genome view * Zhaofei Li a, , Gary Blissard b a State Key Laboratory of Crop Stress Biology for Arid Areas, Key Laboratory of Northwest Loess Plateau Crop Pest Management of Ministry of Agriculture, College of Plant Protection, Northwest A&F University, Taicheng Road, Yangling, Shaanxi 712100, China b Boyce Thompson Institute, Cornell University, Ithaca, NY 14853, USA article info abstract Article history: In eukaryotic cells, regulated vesicular trafficking is critical for directing protein transport and for Received 3 September 2014 recycling and degradation of membrane lipids and proteins. Through carefully regulated transport Received in revised form vesicles, the endomembrane system performs a large and important array of dynamic cellular functions 6 November 2014 while maintaining the integrity of the cellular membrane system. Genetic studies in yeast Saccharomyces Accepted 21 November 2014 cerevisiae have identified approximately 50 vacuolar protein sorting (VPS) genes involved in vesicle Available online 5 December 2014 trafficking, and most of these genes are also characterized in mammals. The VPS proteins form distinct functional complexes, which include complexes known as ESCRT, retromer, CORVET, HOPS, GARP, and Keywords: VPS PI3K-III. Little is known about the orthologs of VPS proteins in insects. Here, with the newly annotated ESCRT Manduca sexta genome, we carried out genomic comparative analysis of VPS proteins in yeast, humans, Retromer and 13 sequenced insect genomes representing the Orders Hymenoptera, Diptera, Hemiptera, Phthir- VPS-C aptera, Lepidoptera, and Coleoptera.
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Transcriptome Analysis of Peripheral Whole Blood Reveals Key Lncrnas Implicated in Childhood Asthma
Transcriptome analysis of peripheral whole blood reveals key lncRNAs implicated in childhood asthma Peiyan Zheng Guangzhou Medical University Chen Huang University of Macau Dongliang Leng University of Macau Mengjie Feng Department of respiratory diseases, Shenzhen People's Hospital, Shen Zhen Baoqing Sun Guangzhou Medical University Xiaohua Douglas Zhang ( [email protected] ) University of Macau https://orcid.org/0000-0002-2486-7931 Research article Keywords: childhood asthma, deep RNA-sequencing, transcriptome, long non-coding RNAs Posted Date: October 10th, 2019 DOI: https://doi.org/10.21203/rs.2.15948/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/26 Abstract Background Asthma is a chronic disorder of both adults and children affecting more than 300 million people heath worldwide. Diagnose and treatment for asthma, particularly in childhood asthma have always remained a great challenge because of its complex pathogenesis and multiple triggers, such as allergen, viral infection, tobacco smoke, dust, etc. It is thereby essential to explore novel biomarker or target for diagnose and therapy. Results In the present study, we performed a systematic transcriptome analysis based on the deep RNA sequencing of ten asthmatic children before and after desensitization treatment. First, a large number of lncRNAs were identied and characterized. Then a co-expressed network analysis was conducted to explore potential asthma-related lncRNAs using WGCNA R package. Module analysis disclosed 17 genes associated to asthma at distinct level. Subsequent network analysis based on PCC gured out several key lncRNAs related to asthma, i.e., LINC02145, GUSBP2, which probably involves in immune, inammatory response and apoptosis process.
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Searching for Rare Variants Associated with Osahs-Related Phenotypes
SEARCHING FOR RARE VARIANTS ASSOCIATED WITH OSAHS-RELATED PHENOTYPES THROUGH PEDIGREES by JINGJING LIANG Dissertation Advisor: Dr. Xiaofeng Zhu Department of Population and Quantitative Health Sciences CASE WESTERN RESERVE UNIVERSITY May 29, 2019 CASE WESTERN RESERVE UNIVERSITY SCHOOL OF GRADUATE STUDIES We hereby approve the thesis/dissertation of Jingjing Liang candidate for the degree of Ph.D Committee Chair Scott M. Williams Committee Member Jonathan L. Haines Committee Member Xiaofeng Zhu Committee Member Rong Xu Committee Member Curtis M. Tatsuoka Date of Defense January 29, 2019 *We also certify that written approval has been obtained for any proprietary material contained therein. 1 Table of Contents CHAPTER 1: LITERATURE REVIEW AND SPECIFIC AIMS ………………14 1.1 Obstructive sleep apnea-hypopnea syndrome …………………………………..14 1.2 AHI and SpO2 …………………………………………………………………...16 1.3 Rare variants and missing heritability …………………………………………..22 1.4 Rare variant association analysis ...………………………………………………24 1.5 Rare variant test using pedigree………………………………………………….27 1.6 Annotating variants in genetic regions ………………………………………….29 1.7 Mendelian randomization………………………………………………………..32 1.8 Specific aims ……………………………………………………………………36 CHAPTER 2: IDENTIFYING LOW FREQUENCY AND RARE VARIANTS ASSOCIATED WITH AVSPO2S USING PEDIGREES .…….………38 2.1 Introduction ……………………………………………………………………...38 2.2 Material and methods……………………………………………………………..42 2.2.1 Description of study samples…..……………………………………………..42 2.2.2 Overview of the method………………………………………………………45 2.2.3 Primary
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