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Ahmet Nayir
Researcher at Istanbul University
Publications - 46
Citations - 5356
Ahmet Nayir is an academic researcher from Istanbul University. The author has contributed to research in topics: Urinary system & Distal renal tubular acidosis. The author has an hindex of 21, co-authored 42 publications receiving 4993 citations.
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Journal ArticleDOI
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi,Ute I. Scholl,Weizhen Ji,Tiewen Liu,Irina Tikhonova,Paul Zumbo,Ahmet Nayir,Ayșin Bakkaloğlu,Seza Ozen,Sami A. Sanjad,Carol Nelson-Williams,Anita Farhi,Shrikant Mane,Richard P. Lifton +13 more
TL;DR: A method for whole-exome sequencing coupling Roche/NimbleGen whole exome arrays to the Illumina DNA sequencing platform is reported, demonstrating the ability to capture approximately 95% of the targeted coding sequences with high sensitivity and specificity for detection of homozygous and heterozygous variants.
Journal ArticleDOI
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
David B. Simon,Ranjit S. Bindra,T A Mansfield,Carol Nelson-Williams,E Mendonca,Richard Stone,S Schurman,Ahmet Nayir,Harika Alpay,Aysin Bakkaloglu,Juan Rodriguez-Soriano,JM Morales,Sami A. Sanjad,CM Taylor,Daniela T. Pilz,A Brem,Howard Trachtman,W Griswold,GA Richard,E John,Richard P. Lifton +20 more
TL;DR: The critical role of CLCNKB in renal salt reabsorption and blood–pressure homeostasis is demonstrated, and the potential role of specific C LCNKB antagonists as diuretic antihypertensive agents is demonstrated.
Journal ArticleDOI
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Fiona E. Karet,Karin E. Finberg,Raoul D. Nelson,Ahmet Nayir,H Mocan,Sami A. Sanjad,Juan Rodriguez-Soriano,Fernando Santos,Cwrj Cremers,A. di Pietro,BI Hoffbrand,J Winiarski,Aysin Bakkaloglu,Seza Ozen,Ruhan Düşünsel,P Goodyer,Sally A. Hulton,Doris K. Wu,Anne B. Skvorak,Cynthia C. Morton,Michael J. Cunningham,[No Value] Jha,Richard P. Lifton +22 more
TL;DR: It is demonstrated that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis.
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Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Annabel N. Smith,Jennifer Skaug,Keith A. Choate,Ahmet Nayir,Aysin Bakkaloglu,Seza Ozen,Sally A. Hulton,Sami A. Sanjad,Essam Al-Sabban,Richard P. Lifton,Stephen W. Scherer,Fiona E. Karet +11 more
TL;DR: A new kidney-specific proton pump 116-kD accessory subunit that is highly expressed in proton-secreting cells in the distal nephron is identified, and its essential role in normal vectorial acid transport into the urine by the kidney is illustrated.
Journal ArticleDOI
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki,Rannar Airik,Amiya K. Ghosh,Rachel H. Giles,Rui Chen,Gisela G. Slaats,Hui Wang,Toby W. Hurd,Weibin Zhou,Andrew Cluckey,Heon Yung Gee,Gokul Ramaswami,Chen Jei Hong,Bruce A. Hamilton,Igor Cervenka,Ranjani Sri Ganji,Vitezslav Bryja,Vitezslav Bryja,Heleen H. Arts,Jeroen van Reeuwijk,Machteld M. Oud,Stef J.F. Letteboer,Ronald Roepman,Hervé Husson,Oxana Ibraghimov-Beskrovnaya,Takayuki Yasunaga,Gerd Walz,Lorraine Eley,John A. Sayer,Bernhard Schermer,Max C. Liebau,Thomas Benzing,Stéphanie Le Corre,Iain A. Drummond,Sabine Janssen,Susan J. Allen,Sivakumar Natarajan,John F. O’Toole,Massimo Attanasio,Sophie Saunier,Corinne Antignac,Robert K. Koenekoop,Huanan Ren,Irma Lopez,Ahmet Nayir,Corinne Stoetzel,Hélène Dollfus,Rustin Massoudi,Joseph G. Gleeson,Sharon P. Andreoli,Dan G. Doherty,Anna Lindstrad,Christelle Golzio,Nicholas Katsanis,Lars Pape,Emad B. Abboud,Ali A. Al-Rajhi,Richard A. Lewis,Heymut Omran,Eva Y.-H. P. Lee,Shaohui Wang,JoAnn Sekiguchi,Rudel A. Saunders,Colin A. Johnson,Elizabeth Garner,K. Vanselow,Jens S. Andersen,Joseph Shlomai,Gudrun Nürnberg,Peter Nürnberg,Shawn Levy,Agata Smogorzewska,Edgar A. Otto,Friedhelm Hildebrandt,Friedhelm Hildebrandt +74 more
TL;DR: It is shown that knockdown of CEP164 or ZNF423 causes sensitivity to DNA damaging agents and that cep164 knockdown in zebrafish results in dysregulated DDR and an NPHP-RC phenotype, and these findings link degenerative diseases of the kidney and retina, disorders of increasing prevalence, to mechanisms of DDR.