List of works - Ersan Kalay

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

scientific article

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

scientific article published on 23 August 2017

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

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

scientific article published in June 2003

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

scientific article published in June 2004

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

scientific article published in May 2005

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

scientific article published in October 2017

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.

scientific article published in July 2005

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

scientific article

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

scientific article published in July 2007

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

scientific article published on 9 April 2016

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

scientific article

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

scientific article published on 22 December 2011

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

scientific article published in July 2006

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 February 2014

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

scientific article

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

scientific article published on 19 July 2011

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

scientific article published in July 2015

RIPK4 suppresses the TGF-β1 signaling pathway in HaCaT cells

scientific article published on 19 December 2019

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

scientific article

X-linked spinal and bulbar muscular atrophy without proximal atrophy

scientific article published on 01 December 2002

List of works by Ersan Kalay

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

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

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

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

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

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

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

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.

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

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

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

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

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

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

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

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

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

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

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

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

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

RIPK4 suppresses the TGF-β1 signaling pathway in HaCaT cells

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

X-linked spinal and bulbar muscular atrophy without proximal atrophy