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Esra Dikoglu
Researcher at National Institutes of Health
Publications - 23
Citations - 834
Esra Dikoglu is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Exome sequencing & Gene. The author has an hindex of 13, co-authored 21 publications receiving 607 citations. Previous affiliations of Esra Dikoglu include Cold Spring Harbor Laboratory & University of Lausanne.
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Journal ArticleDOI
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
Pelin Özlem Şimşek Kiper,Pelin Özlem Şimşek Kiper,Hiroaki Saito,Francesca Gori,Sheila Unger,Eric Hesse,Kei Yamana,Riku Kiviranta,Nicolas Solban,Jeff Liu,Robert Brommage,Koray Boduroğlu,Luisa Bonafé,Belinda Campos-Xavier,Esra Dikoglu,Richard Eastell,Fatma Gossiel,Keith Harshman,Gen Nishimura,Katta M. Girisha,Brian Stevenson,Hiroyuki Takita,Carlo Rivolta,Andrea Superti-Furga,Roland Baron +24 more
TL;DR: This study showed that Pyle's disease was caused by a deficiency of sFRp4, that cortical-bone and trabecular-bone homeostasis were governed by different mechanisms, and that sFRP4-mediated cross-regulation between Wnt and BMP signaling was critical for achieving proper cortical- bone thickness and stability.
Journal ArticleDOI
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu,Vincent Cantagrel,Maha S. Zaki,Lihadh Al-Gazali,Xin Wang,Rasim Ozgur Rosti,Esra Dikoglu,Antoinette Gelot,Basak Rosti,Keith K. Vaux,Eric Scott,Jennifer L. Silhavy,Jana Schroth,Brett Copeland,Ashleigh E. Schaffer,Philip L.S.M. Gordts,Jeffrey D. Esko,Matthew D. Buschman,Seth J. Field,Gennaro Napolitano,Ghada M H Abdel-Salam,R. Köksal Özgül,Mahmut Şamil Sağıroğlu,Matloob Azam,Samira Ismail,Mona Aglan,Laila Selim,Iman G. Mahmoud,Sawsan Abdel-Hadi,Amera El Badawy,Abdelrahim Abdrabou Sadek,Faezeh Mojahedi,Hülya Kayserili,Amira Masri,Laila Bastaki,Samia A. Temtamy,Ulrich Müller,Isabelle Desguerre,Jean-Laurent Casanova,Ali Dursun,Murat Gunel,Stacey Gabriel,Pascale de Lonlay,Joseph G. Gleeson +43 more
TL;DR: A new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability is described, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain–containing sorting factor.
Journal ArticleDOI
Indel variant analysis of short-read sequencing data with Scalpel
Han Fang,Han Fang,Ewa A. Bergmann,Kanika Arora,Vladimir Vacic,Michael C. Zody,Ivan Iossifov,Jason O'Rawe,Jason O'Rawe,Yiyang Wu,Yiyang Wu,Laura T Jimenez Barron,Laura T Jimenez Barron,Julie Rosenbaum,Michael Ronemus,Yoon-ha Lee,Zihua Wang,Esra Dikoglu,Vaidehi Jobanputra,Gholson J. Lyon,Gholson J. Lyon,Michael Wigler,Michael C. Schatz,Michael C. Schatz,Giuseppe Narzisi +24 more
TL;DR: This protocol describes how to use Scalpel to perform highly accurate indel calling from whole-genome and whole-exome sequencing data and provides detailed instructions for an exemplary family-based de novo study.
Journal ArticleDOI
The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes
Olca Basturk,Marcus C.B. Tan,Umesh Bhanot,Peter J. Allen,Volkan Adsay,Sasinya N. Scott,Ronak Shah,Michael F. Berger,Gokce Askan,Esra Dikoglu,Vaidehi Jobanputra,Kazimierz O. Wrzeszczynski,Carlie S. Sigel,Christine A. Iacobuzio-Donahue,David S. Klimstra +14 more
TL;DR: This study elucidates that ‘oncocytic subtype’ of intraductal papillary mucinous neoplasm is not only morphologically distinct but also genetically distinct from other intradUCTal papilla mucinous noplasm subtypes.
Journal ArticleDOI
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
Esra Dikoglu,Ali Abdullah Alfaiz,Maria W. Górna,Deborah Bertola,Jong Hee Chae,Tae Joon Cho,Murat Derbent,Yasemin Alanay,Tulay Guran,Ok Hwa Kim,Juan C. Llerenar,Guillerme Yamamoto,Giulio Superti-Furga,Alexandre Reymond,Ioannis Xenarios,Brian Stevenson,Belinda Campos-Xavier,Luisa Bonafé,Andrea Superti-Furga,Sheila Unger +19 more
TL;DR: Biallelic inheritance and clustering of mutations confirm dysfunction of LONP1 activity as the molecular basis of CODAS but the pathogenesis remains to be explored.