Ersan Kalay

Ersan Kalay

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Ersan Kalay

Ersan Kalay

Publications by authors named "Ersan Kalay"

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23Publications

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Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Authors:
Tuba Dinçer Gülden Yorgancıoğlu-Budak Akgün Ölmez İdris Er Yavuz Dodurga Özmert Ma Özdemir Bayram Toraman Adem Yıldırım Nuran Sabir Nurten A Akarsu C Nur Semerci Ersan Kalay

Eur J Hum Genet 2017 10 23;25(10):1118-1125. Epub 2017 Aug 23.

Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

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http://www.nature.com/doifinder/10.1038/ejhg.2017.120
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http://dx.doi.org/10.1038/ejhg.2017.120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602021PMC
October 2017

HLA-E*0101/0103X is Associated with Susceptibility to Pemphigus Vulgaris: A Case-control Study.

Authors:
Ece Altun Savas Yayli Bayram Toraman Deniz Aksu Arica Ersan Kalay Leyla Baykal Selcuk Sevgi Bahadir

Acta Dermatovenerol Croat 2017 10;25(3):189-194

Assoc. Prof. Savas Yayli, MD, Department of Dermatology Faculty of Medicine Karadeniz Technical University, TR 61080 Trabzon, Turkey;

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October 2017

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Authors:
Mehmet Mutlu Ersan Kalay Beril Dilber Yakup Aslan Embiya Dilber Nour Almaani John A McGrath

Turk J Pediatr 2015 Jul-Aug;57(4):385-387

Division of Neonatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

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February 2017

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.

Authors:
Sevim Şahin Ali Cansu Ersan Kalay Tuba Dinçer Sibel Kul İsmet Miraç Çakır Tülay Kamaşak Gülden Yorgancıoğlu Budak

J Neurol Sci 2016 Jun 9;365:54-8. Epub 2016 Apr 9.

Department of Medical Biology, Karadeniz Technical University Health Science Institute, Trabzon, Turkey.

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http://dx.doi.org/10.1016/j.jns.2016.04.008DOI Listing
June 2016

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

Authors:
Megan L Weber Hong-Yuan Hsin Ersan Kalay Dana S BroŽková Takehiko Shimizu Merve Bayram Kathleen Deeley Erika C Küchler Jessalyn Forella Timothy D Ruff Vanessa M Trombetta Regina C Sencak Michael Hummel Jessica Briseño-Ruiz Shankar K Revu José M Granjeiro Leonardo S Antunes Livia A Antunes Fernanda V Abreu Marcelo C Costa Patricia N Tannure Mine Koruyucu Asli Patir Fernando A Poletta Juan C Mereb Eduardo E Castilla Iêda M Orioli Mary L Marazita Hongjiao Ouyang Thottala Jayaraman Figen Seymen Alexandre R Vieira

BMC Med Genet 2014 Jul 15;15:81. Epub 2014 Jul 15.

Department of Oral Biology, 614 Salk Hall, School of Dental Medicine, University of Pittsburgh, 3501 Terrace Street, 15261 Pittsburgh, PA, USA.

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http://dx.doi.org/10.1186/1471-2350-15-81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112727PMC
July 2014

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Authors:
C Nur Semerci Ersan Kalay Cem Yıldırım Tuba Dinçer Akgün Olmez Bayram Toraman Ali Koçyiğit Yunus Bulgu Volkan Okur Lale Satıroğlu-Tufan Nurten A Akarsu

Br J Ophthalmol 2014 Jun 25;98(6):832-40. Epub 2014 Feb 25.

Department of Medical Genetics, Gene Mapping Laboratory, School of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304058DOI Listing
June 2014

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Authors:
Bayram Toraman Ayşenur Ökten Ersan Kalay Gülay Karagüzel Tuba Dinçer Emel Gül Açıkgöz Ahmet Karagüzel

Gene 2013 Jan 7;513(1):202-8. Epub 2012 Nov 7.

Department of Medical Biology, Karadeniz Technical University Institute of Health Sciences, 61080 Trabzon, Turkey.

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http://dx.doi.org/10.1016/j.gene.2012.10.059DOI Listing
January 2013

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Authors:
Margit Schraders Laura Ruiz-Palmero Ersan Kalay Jaap Oostrik Francisco J del Castillo Orhan Sezgin Andy J Beynon Tim M Strom Ronald J E Pennings Celia Zazo Seco Anne M M Oonk Henricus P M Kunst María Domínguez-Ruiz Ana M García-Arumi Miguel del Campo Manuela Villamar Lies H Hoefsloot Felipe Moreno Ronald J C Admiraal Ignacio del Castillo Hannie Kremer

Am J Hum Genet 2012 11;91(5):883-9

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2012.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487128PMC
November 2012

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Authors:
Ersan Kalay Orhan Sezgin Vasant Chellappa Mehmet Mutlu Heba Morsy Hulya Kayserili Elmar Kreiger Aysegul Cansu Bayram Toraman Ebtesam Mohammed Abdalla Yakup Aslan Shiv Pillai Nurten A Akarsu

Am J Hum Genet 2012 Jan 22;90(1):76-85. Epub 2011 Dec 22.

Department of Medical Biology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

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http://dx.doi.org/10.1016/j.ajhg.2011.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257895PMC
January 2012

Penicillin induced epileptiform activity and EEG spectrum analysis of BDNF heterozygous mice: an in vivo electrophysiological study.

Authors:
Ismail Abidin Mehmet Yildirim Selcen Aydin-Abidin Ersan Kalay Ali Cansu Metehan Akca Thomas Mittmann

Brain Res Bull 2011 Oct 19;86(3-4):159-64. Epub 2011 Jul 19.

Department of Biophysics, Karadeniz Technical University, Trabzon, Turkey.

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http://dx.doi.org/10.1016/j.brainresbull.2011.06.015DOI Listing
October 2011

CEP152 is a genome maintenance protein disrupted in Seckel syndrome.

Authors:
Ersan Kalay Gökhan Yigit Yakup Aslan Karen E Brown Esther Pohl Louise S Bicknell Hülya Kayserili Yun Li Beyhan Tüysüz Gudrun Nürnberg Wieland Kiess Manfred Koegl Ingelore Baessmann Kurtulus Buruk Bayram Toraman Saadettin Kayipmaz Sibel Kul Mevlit Ikbal Daniel J Turner Martin S Taylor Jan Aerts Carol Scott Karen Milstein Helene Dollfus Dagmar Wieczorek Han G Brunner Matthew Hurles Andrew P Jackson Anita Rauch Peter Nürnberg Ahmet Karagüzel Bernd Wollnik

Nat Genet 2011 Jan 5;43(1):23-6. Epub 2010 Dec 5.

Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

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http://dx.doi.org/10.1038/ng.725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430850PMC
January 2011

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Authors:
Zubair M Ahmed Saber Masmoudi Ersan Kalay Inna A Belyantseva Mohamed Ali Mosrati Rob W J Collin Saima Riazuddin Mounira Hmani-Aifa Hanka Venselaar Mayya N Kawar Abdelaziz Tlili Bert van der Zwaag Shahid Y Khan Leila Ayadi S Amer Riazuddin Robert J Morell Andrew J Griffith Ilhem Charfedine Refik Caylan Jaap Oostrik Ahmet Karaguzel Abdelmonem Ghorbel Sheikh Riazuddin Thomas B Friedman Hammadi Ayadi Hannie Kremer

Nat Genet 2008 Nov 26;40(11):1335-40. Epub 2008 Oct 26.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/ng.245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404732PMC
November 2008

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Authors:
Rob W J Collin Ersan Kalay Muhammad Tariq Theo Peters Bert van der Zwaag Hanka Venselaar Jaap Oostrik Kwanghyuk Lee Zubair M Ahmed Refik Caylan Yun Li Henk A Spierenburg Erol Eyupoglu Angelien Heister Saima Riazuddin Elif Bahat Muhammad Ansar Selcuk Arslan Bernd Wollnik Han G Brunner Cor W R J Cremers Ahmet Karaguzel Wasim Ahmad Frans P M Cremers Gert Vriend Thomas B Friedman Sheikh Riazuddin Suzanne M Leal Hannie Kremer

Am J Hum Genet 2008 Jan;82(1):125-38

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2007.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253958PMC
January 2008

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

Authors:
Ersan Kalay Abdullah Uzumcu Elmar Krieger Refik Caylan Oya Uyguner Melike Ulubil-Emiroglu Hidayet Erdol Hülya Kayserili Gunter Hafiz Nermin Başerer Angelien J G M Heister Hans C Hennies Peter Nürnberg Seher Başaran Han G Brunner Cor W R J Cremers Ahmet Karaguzel Bernd Wollnik Hannie Kremer

Am J Med Genet A 2007 Oct;143A(20):2382-9

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31937DOI Listing
October 2007

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Authors:
Rob W J Collin Ersan Kalay Jaap Oostrik Refik Caylan Bernd Wollnik Selçuk Arslan Anneke I den Hollander Yelda Birinci Peter Lichtner Tim M Strom Bayram Toraman Lies H Hoefsloot Cor W R J Cremers Han G Brunner Frans P M Cremers Ahmet Karaguzel Hannie Kremer

Hum Mutat 2007 Jul;28(7):718-23

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.20510DOI Listing
July 2007

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Authors:
Ersan Kalay Yun Li Abdullah Uzumcu Oya Uyguner Rob W Collin Refik Caylan Melike Ulubil-Emiroglu Ferry F J Kersten Gunter Hafiz Erwin van Wijk Hulya Kayserili Edyta Rohmann Janine Wagenstaller Lies H Hoefsloot Tim M Strom Gudrun Nürnberg Nermin Baserer Anneke I den Hollander Frans P M Cremers Cor W R J Cremers Christian Becker Han G Brunner Peter Nürnberg Ahmet Karaguzel Seher Basaran Christian Kubisch Hannie Kremer Bernd Wollnik

Hum Mutat 2006 Jul;27(7):633-9

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.20368DOI Listing
July 2006

Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey.

Authors:
Burcu Balci Filiz Ozbaş Gerçeker Songül Aksoy Gonca Sennaroğlu Ersan Kalay Levent Sennaroğlu Pervin Dinçer

Turk J Pediatr 2005 Jul-Sep;47(3):213-21

Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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November 2005

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

Authors:
Marie Wattenhofer Nilüfer Sahin-Calapoglu Ditte Andreasen Ersan Kalay Refik Caylan Bastien Braillard Nicole Fowler-Jaeger Alexandre Reymond Bernard C Rossier Ahmet Karaguzel Stylianos E Antonarakis

Hum Genet 2005 Oct 14;117(6):528-35. Epub 2005 Jul 14.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s00439-005-1332-xDOI Listing
October 2005

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Authors:
Ersan Kalay Refik Caylan Hannie Kremer Arjan P M de Brouwer Ahmet Karaguzel

Hear Res 2005 May;203(1-2):88-93

Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2004.11.022DOI Listing
May 2005

Effects of leptin and insulin on CA III expression in rat adipose tissue.

Authors:
Ahmet Alver Fahri Uçar E Edip Keha Ersan Kalay Ercüment Ovali

J Enzyme Inhib Med Chem 2004 Jun;19(3):279-81

Department of Biochemistry, Faculty of Medicine, Karadeniz Technical University, 61080 Trabzon, Turkey.

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http://dx.doi.org/10.1080/14756360410001720445DOI Listing
June 2004

Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy.

Authors:
Cavit Boz Ersan Kalay Nilufer Sahin Sibel Velioglu Mehmet Ozmenoglu Ahmet Karagüzel

J Clin Neuromuscul Dis 2004 Mar;5(3):115-8

From the Departments of *Neurology and daggerGenetics, Medical Faculty of Karadeniz Technical University 61080 Trabzon, Turkey.

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March 2004

Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.

Authors:
Nilufer Sahin Meliha Tan Ersan Kalay Mustafa Calapoglu Ahmet Karaguzel

Int J Neurosci 2003 Jun;113(6):777-85

BlackSea Technical University, Medical School, Department of Medical Biology, Trabzon, Turkey.

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http://dx.doi.org/10.1080/00207450390200972DOI Listing
June 2003

X-linked spinal and bulbar muscular atrophy without proximal atrophy.

Authors:
Cavit Boz Nilufer Sahin Ersan Kalay Sibel Velioglu Mehmet Ozmenoglu

Clin Neurol Neurosurg 2002 Dec;105(1):14-7

Department of Neurology, Medical Faculty of Karadeniz Technical University, 61080 Trabzon, Turkey.

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http://dx.doi.org/10.1016/s0303-8467(02)00055-0DOI Listing
December 2002