M
Mustafa Tekin
Researcher at University of Miami
Publications - 343
Citations - 10253
Mustafa Tekin is an academic researcher from University of Miami. The author has contributed to research in topics: Hearing loss & Exome sequencing. The author has an hindex of 50, co-authored 311 publications receiving 8723 citations. Previous affiliations of Mustafa Tekin include Çukurova University & Çanakkale Onsekiz Mart University.
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Journal ArticleDOI
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Paulina Navon Elkan,Sarah B. Pierce,Reeval Segel,Reeval Segel,Tom Walsh,Judith Barash,Shai Padeh,Abraham Zlotogorski,Yackov Berkun,Joseph J. Press,Mukamel M,Isabel Voth,Philip J. Hashkes,Liora Harel,Vered Hoffer,Eduard Ling,Fatoş Yalçınkaya,Ozgur Kasapcopur,Ming K. Lee,Rachel E. Klevit,Paul Renbaum,Ariella Weinberg-Shukron,Ariella Weinberg-Shukron,Elif Funda Sener,Elif Funda Sener,Barbara Schormair,Sharon Zeligson,Dina Marek-Yagel,Tim M. Strom,Mordechai Shohat,Mordechai Shohat,Amihood Singer,Alan Rubinow,Elon Pras,Juliane Winkelmann,Juliane Winkelmann,Mustafa Tekin,Yair Anikster,Mary Claire King,Ephrat Levy-Lahad,Ephrat Levy-Lahad +40 more
TL;DR: Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression.
Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
The promise of whole-exome sequencing in medical genetics.
TL;DR: In this review, the impacts of WES in medical genetics as well as its consequences leading to improve health care are summarized.
Journal ArticleDOI
Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Hyung Goo Kim,Ingo Kurth,Fei Lan,Irene Meliciani,Wolfgang Wenzel,Soo Hyun Eom,Gil Bu Kang,Georg Rosenberger,Mustafa Tekin,Metin Ozata,David P. Bick,Richard J. Sherins,Steven L. Walker,Yang Shi,James F. Gusella,Lawrence C. Layman +15 more
TL;DR: CHD7 represents the first identified chromatin-remodeling protein with a role in human puberty and the second gene to cause both normosmic IHH and KS in humans.
Journal ArticleDOI
Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity
Vanja Sisirak,Benjamin Sally,Benjamin Sally,Vivette D. D'Agati,Wilnelly Martinez-Ortiz,Z. Birsin Özçakar,Joseph David,Ali Rashidfarrokhi,Ada Yeste,Casandra Panea,Asiya Seema Chida,Milena Bogunovic,Ivaylo I. Ivanov,Francisco J. Quintana,Iñaki Sanz,Keith B. Elkon,Mustafa Tekin,Fatoş Yalçınkaya,Timothy Cardozo,Robert R. Clancy,Jill P. Buyon,Boris Reizis,Boris Reizis +22 more
TL;DR: It is reported that DNASE1L3-deficient mice rapidly develop autoantibodies to DNA and chromatin, followed by an SLE-like disease, and its restoration may represent a therapeutic opportunity in the disease.