Zeynep Coban Akdemir
Overview
Explore the profile of Zeynep Coban Akdemir including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
1187
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Recent Articles
1.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor A, Sullivan J, et al.
Am J Hum Genet
. 2023 Feb;
110(3):499-515.
PMID: 36724785
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T (TTT) complex that modulates activity of...
2.
Khalaf-Nazzal R, Fasham J, Inskeep K, Blizzard L, Leslie J, Wakeling M, et al.
Am J Hum Genet
. 2022 Oct;
109(11):2068-2079.
PMID: 36283405
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family of molecules....
3.
Munch J, Engesser M, Schonauer R, Hamm J, Hartig C, Hantmann E, et al.
Kidney Int
. 2022 Mar;
101(5):1039-1053.
PMID: 35227688
Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the...
4.
Marafi D, Fatih J, Kaiyrzhanov R, Ferla M, Gijavanekar C, Al-Maraghi A, et al.
Brain
. 2021 Oct;
145(3):909-924.
PMID: 34605855
The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in...
5.
Mitani T, Isikay S, Gezdirici A, Gulec E, Punetha J, Fatih J, et al.
Am J Hum Genet
. 2021 Sep;
108(10):1981-2005.
PMID: 34582790
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDDs is > 3%, resulting in significant...
6.
Calame D, Fatih J, Herman I, Akdemir Z, Du H, Jhangiani S, et al.
Neurol Genet
. 2021 May;
7(3):e589.
PMID: 33977145
Objective: Pathogenic variants in , the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A,...
7.
Rickman O, Salter C, Gunning A, Fasham J, Voutsina N, Leslie J, et al.
Parkinsonism Relat Disord
. 2020 Dec;
82:84-86.
PMID: 33260061
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define...
8.
Dyment D, ODonnell-Luria A, Agrawal P, Akdemir Z, Aleck K, Antaki D, et al.
Am J Med Genet A
. 2020 Oct;
185(1):119-133.
PMID: 33098347
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or...
9.
Mace E, Paust S, Conte M, Baxley R, Schmit M, Patil S, et al.
J Clin Invest
. 2020 Sep;
130(10):5272-5286.
PMID: 32865517
Human natural killer cell deficiency (NKD) arises from inborn errors of immunity that lead to impaired NK cell development, function, or both. Through the understanding of the biological perturbations in...
10.
Robak L, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, et al.
Neurol Genet
. 2020 Aug;
6(5):e498.
PMID: 32802956
Objective: To determine how single nucleotide variants (SNVs) and copy number variants (CNVs) contribute to molecular diagnosis in familial Parkinson disease (PD), we integrated exome sequencing (ES) and genome-wide array-based...