Publications Authored by Oscar Diaz-Horta

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Hum Genet 2018 Jul 7;137(6-7):479-486. Epub 2018 Jul 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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July 2018

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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May 2016

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Genet Med 2016 Apr 30;18(4):364-71. Epub 2015 Jul 30.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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April 2016

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Authors:

Imen Chakchouk M'hamed Grati Guney Bademci Mariem Bensaid Qi Ma Amine Chakroun Joseph Foster Denise Yan Duygu Duman Oscar Diaz-Horta Abdelmonem Ghorbel Rahul Mittal Amjad Farooq Mustafa Tekin Saber Masmoudi Xue Zhong Liu

Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

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August 2015

Whole-exome sequencing and its impact in hereditary hearing loss.

Authors:

Tahir Atik Guney Bademci Oscar Diaz-Horta Susan H Blanton Mustafa Tekin

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.

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March 2015

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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February 2015

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Authors:

Guney Bademci Oscar Diaz-Horta Shengru Guo Duygu Duman Derek Van Booven Joseph Foster Filiz Basak Cengiz Susan Blanton Mustafa Tekin

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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September 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Authors:

Oscar Diaz-Horta Asli Subasioglu-Uzak M'hamed Grati Alexandra DeSmidt Joseph Foster Lei Cao Guney Bademci Suna Tokgoz-Yilmaz Duygu Duman F Basak Cengiz Clemer Abad Rahul Mittal Susan Blanton Xue Z Liu Amjad Farooq Katherina Walz Zhongmin Lu Mustafa Tekin

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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July 2014

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Authors:

Willa Thorson Oscar Diaz-Horta Joseph Foster Michail Spiliopoulos Rubén Quintero Amjad Farooq Susan Blanton Mustafa Tekin

Hum Genet 2014 Jun 13;133(6):737-42. Epub 2013 Dec 13.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

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June 2014

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

Authors:

Z Birsin Ozçakar Joseph Foster Oscar Diaz-Horta Ozgur Kasapcopur Yao-Shan Fan Fatoş Yalçınkaya Mustafa Tekin

Arthritis Rheum 2013 Aug;65(8):2183-9

Ankara University School of Medicine, Ankara, Turkey.

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August 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Authors:

Oscar Diaz-Horta Duygu Duman Joseph Foster Aslı Sırmacı Michael Gonzalez Nejat Mahdieh Nikou Fotouhi Mortaza Bonyadi Filiz Başak Cengiz Ibis Menendez Rick H Ulloa Yvonne J K Edwards Stephan Züchner Susan Blanton Mustafa Tekin

PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.

John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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May 2013

SLITRK6 mutations cause myopia and deafness in humans and mice.

J Clin Invest 2013 May 1;123(5):2094-102. Epub 2013 Apr 1.

John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.

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May 2013

First-degree relatives of persons with type 1 diabetes: insulin resistance and enterovirus infection are associated with different patterns of islet cell autoimmunity.

Authors:

Ileana Cubas-Dueñas Eduardo Cabrera-Rode Luis Sarmiento Gisela Molina Magilé Fonseca Celeste Arranz Emma Domínguez Pedro González Manuel Vera Oscar Díaz-Horta

Acta Diabetol 2013 Apr 21;50(2):233-9. Epub 2011 May 21.

Department of Immunology and Genetics on Diabetes, National Institute of Endocrinology, Zapata and D, 10400, Havana, Cuba.

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April 2013

GPSM2 mutations in Chudley-McCullough syndrome.

Authors:

Oscar Diaz-Horta Asli Sirmaci Dan Doherty Walter Nance Kathleen Arnos Arti Pandya Mustafa Tekin

Am J Med Genet A 2012 Nov 14;158A(11):2972-3. Epub 2012 Sep 14.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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November 2012

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Am J Hum Genet 2012 11;91(5):872-82

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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November 2012

Enteroviruses and causality of type 1 diabetes: how close are we?

Authors:

Oscar Diaz-Horta Andreina Baj Giuseppe Maccari Alessandro Salvatoni Antonio Toniolo

Pediatr Diabetes 2012 Feb 20;13(1):92-9. Epub 2011 Oct 20.

Department of Experimental Medicine, Laboratory of Medical Microbiology, University of Insubria, Varese, Italy.

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February 2012

[Frequency and characteristics of metabolic syndrome and insulin resistance in the first-degree relatives of persons with type 1 diabetes].

Authors:

Eduardo Cabrera-Rode Sigrid Marichal Judith Parlá Celeste Arranz Roberto González Cecilia Pérez Pedro González Manuel L Vera Oscar Díaz-Horta

Endocrinol Nutr 2010 Aug-Sep;57(7):311-21. Epub 2010 Jul 16.

Instituto Nacional de Endocrinología, La Habana, Cuba.

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February 2011

Relationship of type 1 diabetes to ancestral proportions and HLA DR/DQ alleles in a sample of the admixed Cuban population.

Authors:

Oscar Diaz-Horta Alberto Cintado Maria Elena Fernandez-De-Cossio Marcelo Nazabal Annia Ferrer Juan Roca Hamlet Camacho Jesus Benítez Mayte Ale Adelaida Villarreal Gisela Molina Manuel Vera Eduardo Cabrera-Rode Lidia Novoa

Ann Hum Biol 2010 Nov 22;37(6):778-88. Epub 2010 Jun 22.

Departamento de Inmunologia y Genetica de la Diabetes, Instituto Nacional de Endocrinología, Zapata y D, Havana, Cuba.

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November 2010

Occurrence of enterovirus RNA in serum of children with newly diagnosed type 1 diabetes and islet cell autoantibody-positive subjects in a population with a low incidence of type 1 diabetes.

Authors:

Luis Sarmiento Eduardo Cabrera-Rode Lister Lekuleni Ileana Cuba Gisela Molina Magile Fonseca Lai Heng-Hung Abel Diaz Borroto Pedro Gonzalez Pedro Mas-Lago Oscar Diaz-Horta

Autoimmunity 2007 Nov;40(7):540-5

Department of Virology, Pedro Kouri Tropical Medicine Institute, Havana, Cuba.

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November 2007

Antibodies to human glutamic acid decarboxylase in sera from enterovirus-immunized rabbit.

Authors:

Luis Sarmiento Eduardo Cabrera-Rode Pedro Mas-Lago Oscar Díaz-Horta

Autoimmunity 2007 Nov;40(7):546-7

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November 2007

Celiac disease associated antibodies in persons with latent autoimmune diabetes of adult and type 2 diabetes.

Autoimmunity 2007 Mar;40(2):103-7

Department of Diabetes Mellitus Immunity, National Institute of Endocrinology, Zapata and D, Vedado, Havana 10 400, Cuba.

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March 2007

Effect of standard nicotinamide in the prevention of type 1 diabetes in first degree relatives of persons with type 1 diabetes.

Autoimmunity 2006 Jun;39(4):333-40

Department of Immunology of Diabetes Mellitus, National Institute of Endocrinology, Zapata and D, Vedado, Havana, Cuba.

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June 2006

Islet cell related antibodies and type 1 diabetes associated with echovirus 30 epidemic: a case report.

Authors:

Eduardo Cabrera-Rode Luis Sarmiento Gisela Molina Cecilia Pérez Celeste Arranz José A Galvan Mirta Prieto Julio Barrios Rosa Palomera Magile Fonseca Pedro Mas Oscar Díaz-Díaz Oscar Díaz-Horta

J Med Virol 2005 Jul;76(3):373-7

Department of Immunology of Diabetes, National Institute of Endocrinology, Havana, Cuba.

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July 2005

Na/Ca exchanger overexpression induces endoplasmic reticulum stress, caspase-12 release, and apoptosis.

Authors:

Oscar Díaz-Horta Françoise Van Eylen André Herchuelz

Ann N Y Acad Sci 2003 Dec;1010:430-2

Laboratory of Pharmacology, Brussels University School of Medicine, Brussels, Belgium.

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December 2003

Na/Ca exchange in function, growth, and demise of beta-cells.

Authors:

André Herchuelz Oscar Diaz-Horta Françoise Van Eylen

Ann N Y Acad Sci 2002 Nov;976:315-24

Laboratory of Pharmacology, Brussels University School of Medicine, B-1070, Brussels, Belgium.

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November 2002

Slowly progressing type 1 diabetes: persistence of islet cell autoantibodies is related to glibenclamide treatment.

Authors:

Eduardo Cabrera-Rode Pedro Perich Oscar Diaz-Horta Claudio Tiberti Gisela Molina Celeste Arranz Juana M Martin Manuel Licea Alberto D De Leiva Manuel Puig-Domingo Umberto Dimario

Autoimmunity 2002 Nov;35(7):469-74

Department of Immunology of Diabetes Mellitus, National Institute of Endocrinology, Vedado, Havana, Cuba.

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November 2002

Na/Ca exchanger overexpression induces endoplasmic reticulum-related apoptosis and caspase-12 activation in insulin-releasing BRIN-BD11 cells.

Authors:

Oscar Diaz-Horta Adama Kamagate André Herchuelz Françoise Van Eylen

Diabetes 2002 Jun;51(6):1815-24

Laboratory of Pharmacology, Brussels University School of Medicine, Brussels, Belgium.

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June 2002

Overexpression of the Na/Ca exchanger shapes stimulus-induced cytosolic Ca(2+) oscillations in insulin-producing BRIN-BD11 cells.

Authors:

Françoise Van Eylen Oscar Diaz Horta Aurore Barez Adama Kamagate Peter R Flatt Regina Macianskiene Kanigula Mubagwa André Herchuelz

Diabetes 2002 Feb;51(2):366-75

Laboratory of Pharmacology, Brussels University School of Medicine, Brussels, Belgium.

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February 2002

Oscar Diaz-Horta

Oscar Diaz-Horta

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