المؤلفون: Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin

المصدر: PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4373692?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10

المؤلفون: Hans Michael Piper, Susanne Rohrbach, Dursun Gündüz, Klaus-Dieter Schlüter, Thomas Noll, Sabiha Nazli, Rainer Schulz, Muhammad Aslam, Amir Rafiq

المصدر: The Journal of Physiology. 591:461-473

مصطلحات موضوعية: Adherens junction, Myosin light-chain kinase, RHOA, biology, Physiology, biology.protein, Actin cytoskeleton, Rho-associated protein kinase, Cell junction, Actin, Barrier function, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e73036f0796b3931607217f373aaa39
https://doi.org/10.1113/jphysiol.2012.237834

المؤلفون: Saima Riazuddin, Zubair M. Ahmed, Anke Busch, Doris K. Wu, Richard Chang, Eddie Park, Vincent Huang, Xinjian Wang, Nada Al-Sheqaih, Arnold Starr, Sarah E. Mahl, Catherine Florentz, William G. Newman, Mariella Simon, Min-Xin Guan, Hagen Schwenzer, Thomas Dorn, Taosheng Huang, Antonio Davila, Prasanth Potluri, Sabiha Nazli, Ronghua Li, Elodie Richard, Tanveer A. Qaiser, Jose E. Abdenur, Vincent Procaccio, Jie Wu, Thomas B. Friedman, Sheikh Riazuddin, Rashmi S. Hegde, Douglas C. Wallace, Margret Yu, Adrian Flierl, Mohsin Shahzad, Saege Hancock, Marie Sissler, Jay Gargus, Shaheen N. Khan

المساهمون: Centre National de la Recherche Scientifique (CNRS)

المصدر: PLoS Genetics
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005097. ⟨10.1371/journal.pgen.1005097⟩
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Simon, M; Richard, EM; Wang, X; Shahzad, M; Huang, VH; Qaiser, TA; et al.(2015). Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome. PLoS Genetics, 11(3). doi: 10.1371/journal.pgen.1005097. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2dt5r3jw

مصطلحات موضوعية: Male, Cancer Research, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, Gene Expression, Deafness, RNA, Transfer, Amino Acyl, Compound heterozygosity, medicine.disease_cause, Mice, 0302 clinical medicine, Mutant protein, Missense mutation, Nonsyndromic deafness, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Mutation, Asparaginyl-tRNA synthetase, Middle Aged, Mitochondria, Pedigree, Mitochondrial respiratory chain, Molecular Medicine, Female, Leigh Disease, medicine.symptom, Research Article, Adult, lcsh:QH426-470, Hearing loss, Mutation, Missense, Biology, 03 medical and health sciences, Oxygen Consumption, medicine, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Leigh disease, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Cell Biology, Fibroblasts, medicine.disease, Molecular biology, lcsh:Genetics, Ear, Inner, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae37166b1c7fa36b3f138be299e354dd
https://hal.archives-ouvertes.fr/hal-03365841

المؤلفون: Robert J. Morell, Kevin C. Chen, Kyle Caution, Thomas B. Friedman, William J. Pavan, Eric D. Green, Saima Riazuddin, Manju Ghosh, Sadaf Naz, Shaheen N. Khan, Penelope L. Friedman, Zubair M. Ahmed, Sabiha Nazli, Edward R. Wilcox, Ahmad Usman Zafar, Madhulika Kabra, Sheikh Riazuddin, Anthony Antonellis

المصدر: The American Journal of Human Genetics. 78:137-143

مصطلحات موضوعية: Chromosomes, Human, Pair 22, Molecular Sequence Data, India, Genes, Recessive, Locus (genetics), Deafness, Biology, Frameshift mutation, Mice, Exon, Gene Frequency, Report, Genetics, medicine, Animals, Humans, Pakistan, Genetics(clinical), Nonsyndromic deafness, Allele, Gene, Genetics (clinical), DNA Primers, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Genetic heterogeneity, Microfilament Proteins, Alternative splicing, Chromosome Mapping, Sequence Analysis, DNA, medicine.disease, Pedigree, Alternative Splicing, Gene Components, Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bdcd7d741b0fd5f500848d378310f9b
https://doi.org/10.1086/499164

المؤلفون: Muhammad, Aslam, Klaus-Dieter, Schluter, Susanne, Rohrbach, Amir, Rafiq, Sabiha, Nazli, Hans Michael, Piper, Thomas, Noll, Rainer, Schulz, Dursun, Gündüz

المصدر: The Journal of physiology. 591(2)

مصطلحات موضوعية: rac1 GTP-Binding Protein, Swine, In Vitro Techniques, Cardiovascular, Muscle, Smooth, Vascular, Permeability, Antigens, CD, Stress Fibers, Cyclic AMP, Human Umbilical Vein Endothelial Cells, Animals, Guanine Nucleotide Exchange Factors, Humans, Myosin-Light-Chain Kinase, Aorta, rho-Associated Kinases, Endothelial Cells, Adherens Junctions, Cadherins, Actins, Cell Hypoxia, Rats, Vasoconstriction, Calcium, rhoA GTP-Binding Protein, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d068fe31bd58d1502991e817e4261ae8
https://pubmed.ncbi.nlm.nih.gov/23090948

المؤلفون: Sheikh Riazuddin, Zubair M. Ahmed, Yi Yang, Fareeha Zulfiqar, James R. Sellers, Thomas B. Friedman, Edward R. Wilcox, Saima Riazuddin, Erich T. Boger, Rehan S. Shaikh, Inna A. Belyantseva, Shaheen N. Khan, Fouzia T. Javid, Ahmed U. Zafar, Ekaterini Tsilou, Farooq Sabar, Sabiha Nazli

المصدر: Human mutation. 29(4)

مصطلحات موضوعية: Male, Models, Molecular, Genetic Linkage, Protein Conformation, Usher syndrome, Mutant, Deafness, Consanguinity, Mice, Nonsyndromic deafness, Genetics (clinical), Sequence Deletion, Genetics, Base Composition, Exons, Middle Aged, Pedigree, medicine.anatomical_structure, Phenotype, Myosin VIIa, Female, Hair cell, Usher Syndromes, Adult, DNA, Complementary, MYO7A, Recombinant Fusion Proteins, Green Fluorescent Proteins, Molecular Sequence Data, Genes, Recessive, Biology, Myosins, Transfection, Genetic linkage, otorhinolaryngologic diseases, medicine, Animals, Humans, Amino Acid Sequence, Allele, Gene, Alleles, Hair Cells, Auditory, Inner, Sequence Homology, Amino Acid, Chromosomes, Human, Pair 11, Dyneins, medicine.disease, Kinetics, Mutation, sense organs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7c688f398178f0986c05c9c9500cf3
https://pubmed.ncbi.nlm.nih.gov/18181211

المؤلفون: Saima Riazuddin, Zubair M. Ahmed, Shaheen N. Khan, Rehan S. Shaikh, Sabiha Nazli, Khushnooda Ramzan, Sameera Sattar, Thomas B. Friedman, Sheikh Riazuddin

المصدر: American journal of medical genetics. Part A. 138(4)

مصطلحات موضوعية: Genetics, Male, Extramural, Chromosomes, Human, Pair 11, Serine Endopeptidases, Library science, Chromosome Mapping, Membrane Proteins, Locus (genetics), Biology, Deafness, medicine.disease, Article, Neoplasm Proteins, Pedigree, medicine, Humans, Female, Nonsyndromic deafness, Lod Score, Genetics (clinical), Lod score

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9fcf94eab33186040524e0e51cde7fd
https://pubmed.ncbi.nlm.nih.gov/16158433