Metrikler
Yayın
47
Açık Erişim
8
BM Sürdürülebilir Kalkınma Amaçları
Eğitim Bilgileri
2002 - 2008
2002 - 2008Doktora
Hacettepe Üniversitesi, Tıp Fakültesi , Tıbbi Biyoloji Anabilim Dalı, Türkiye
2000 - 2002
2000 - 2002Yüksek Lisans
Hacettepe Üniversitesi, Tıp Fakültesi , Tıbbi Biyoloji Anabilim Dalı, Türkiye
1995 - 1999
1995 - 1999Lisans
Ankara Üniversitesi, Fen Fakültesi, Biyoloji Bölümü, Türkiye
Yaptığı Tezler
2008
2008Doktora
Beta galaktozid alfa-2,6-siyaliltransferaz (ST6Gal1)'ın Sporadik İnklüzyon Cisimcik Miyoziti (sIBM) patogenezindeki rolünün in vitro model oluşturularak araştırılması
Hacettepe Üniversitesi, Sağlık Bilimleri Enstitüsü, Tıbbi Biyoloji (Dr)
2002
2002Yüksek Lisans
İşitme kaybında sorumlu Connexin 26 (Cx26/GJB2) geni 35delG mutasyonunun populasyonumuz için atasal haplotipinin belirlenmesi
Hacettepe Üniversitesi, Sağlık Bilimleri Enstitüsü, Tıbbi Biyoloji (Yl) (Tezli)
Yabancı Diller
C1 İleri
C1 İleriİngilizce
Araştırma Alanları
Tıp
Sağlık Bilimleri
Temel Tıp Bilimleri
Tıbbi Biyoloji
Akademik Ünvanlar / Görevler
2023 - Devam Ediyor
2023 - Devam EdiyorProf. Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Temel Tıp Bilimleri Bölümü
2017 - 2023
2017 - 2023Doç. Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Temel Tıp Bilimleri Bölümü
2014 - 2017
2014 - 2017Yrd. Doç. Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Temel Tıp Bilimleri Bölümü
2012 - 2014
2012 - 2014Öğretim Görevlisi Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Temel Tıp Bilimleri Bölümü
2001 - 2012
2001 - 2012Araştırma Görevlisi
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Temel Tıp Bilimleri Bölümü
Makaleler
Tümü (35)
SCI-E, SSCI, AHCI (33)
SCI-E, SSCI, AHCI, ESCI (34)
ESCI (1)
Scopus (33)
TRDizin (3)
2025
20251. Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis
KURT C. E., Aksu-Menges E., Kumtepe E. T., DURMAZ ÖZDİNÇ C. D., Terzi Y. K., ERGÜL ÜLGER Z., et al.
BMC NEUROLOGY
, cilt.25, sa.1, 2025 (SCI-Expanded, Scopus)
2025
20252. Hypotonic Swelling Method for the Isolation of Pure Mitochondria From Primary Human Skeletal Myoblasts for Proteomic Studies
AKSU MENGEŞ E., Kumtepe E. T., AKPINAR G., Balci-Hayta B.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
, sa.2, 2025 (SCI-Expanded, Scopus)
2024
20243. VARIABLE PHENOTYPE IN FEMALES WITH HETEROZYGOUS GJB1 MUTATION
KURT C. E., ERGÜL ÜLGER Z., TEMUÇİN Ç. M., Kumtepe E. T., BALCI B., Tan E., et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
, 2024 (SCI-Expanded, Scopus)
2022
20224. Two distinct skeletal muscle microRNA signatures revealing the complex mechanism of sporadic ALS
AKSU MENGEŞ E., Balci-Hayta B., Bekircan-Kurt C. E., Aydinoglu A. T., ERDEM ÖZDAMAR S., Tan E.
ACTA NEUROLOGICA BELGICA
, cilt.122, sa.6, ss.1499-1509, 2022 (SCI-Expanded, Scopus)
2022
20225. Mitochondrial Dysfunction in Cyanotic Congenital Heart Disease: A Promising Therapeutic Approach for the Future.
Ucar Z., Akbaba T. H., Aydinoglu A. T., Onder S. C., Balci-Peynircioglu B., Demircin M., et al.
Pediatric cardiology
, cilt.43, sa.8, ss.1870-1878, 2022 (SCI-Expanded, Scopus)
2021
20216. Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature
Cagdas D. N., Halacli S., Tan C., Esenboğa S., Karaatmaca B., Cetinkaya P. G., et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
, cilt.9, sa.10, ss.3752-3770, 2021 (SCI-Expanded, Scopus)
2021
20217. Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy
AKSU MENGEŞ E., Eylem C. C., NEMUTLU E., Gizer M., KORKUSUZ P., Topaloglu H., et al.
SCIENTIFIC REPORTS
, cilt.11, sa.1, 2021 (SCI-Expanded, Scopus)
2021
20218. Biologia Futura: the importance of 3D organoids-a new approach for research on neurological and rare diseases
AKBABA T. H., Bekircan-Kurt C. E., Balci-Peynircioglu B., Balci-Hayta B.
BIOLOGIA FUTURA
, cilt.72, sa.3, ss.281-290, 2021 (SCI-Expanded, Scopus)
2020
20209. Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy
Bora G., Hensel N., Rademacher S., Koyunoğlu D., Sunguroğlu M., Aksu-Mengeş E., et al.
HUMAN MOLECULAR GENETICS
, cilt.29, sa.24, ss.3935-3944, 2020 (SCI-Expanded, Scopus)
2020
202010. The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies
AKSU MENGEŞ E., Akkaya-Ulum Y. Z., DAYANGAÇ ERDEN D., Balci-Peynircioglu B., YÜZBAŞIOĞLU A., Topaloglu H., et al.
AMERICAN JOURNAL OF PATHOLOGY
, cilt.190, sa.10, ss.2136-2145, 2020 (SCI-Expanded, Scopus)
2020
202011. Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
Cagdas D. N., Surucu N., TAN Ç., ÖZGÜL R. K., Akkaya-Ulum Y. Z., Aydinoglu A. T., et al.
MOLECULAR IMMUNOLOGY
, cilt.121, ss.28-37, 2020 (SCI-Expanded, Scopus)
2019
201912. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects
Cagdas D. N., Halaçlı S., Tan Ç., Lo B., Çetinkaya P., Esenboğa S., et al.
JOURNAL OF CLINICAL IMMUNOLOGY
, cilt.39, sa.7, ss.726-738, 2019 (SCI-Expanded, Scopus)
2019
201913. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Geis T., Roedl T., Topaloglu H., Balci-Hayta B., Hinreiner S., Mueller-Felber W., et al.
ORPHANET JOURNAL OF RARE DISEASES
, cilt.14, 2019 (SCI-Expanded, Scopus)
2018
201814. LARGE expression in different types of muscular dystrophies other than dystroglycanopathy
Balci-Hayta B., TALİM B., KALE G., Dincer P.
BMC NEUROLOGY
, cilt.18, 2018 (SCI-Expanded, Scopus)
2018
201815. Establishment of primary myoblast cell cultures from cryopreserved skeletal muscle biopsies to serve as a tool in related research & development studies
Balci-Hayta B., Bekircan-Kurt C. E., AKSU MENGEŞ E., DAYANGAÇ ERDEN D., Tan E., ERDEM ÖZDAMAR S.
JOURNAL OF THE NEUROLOGICAL SCIENCES
, cilt.393, ss.100-104, 2018 (SCI-Expanded, Scopus)
2018
201816. Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy
BEKSAÇ M. S., TANAÇAN A., AYDIN HAKLI D., ÖRGÜL G., SOYAK B., HAYTA B., et al.
JOURNAL OF PREGNANCY
, cilt.2018, 2018 (ESCI, Scopus)
2015
201517. Proinflammatory effect of AbetaPP induced ST6GAL1 secretion from C2C12 myogenic cell line
HAYTA B., ERDEM ÖZDAMAR S., Dincer P.
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
, cilt.40, sa.1, ss.31-36, 2015 (SCI-Expanded, Scopus, TRDizin)
2014
201418. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies
Kayman-Kurekci G., TALİM B., KORKUSUZ P., Sayar N., Sarioglu T., Oncel İ. H., et al.
NEUROMUSCULAR DISORDERS
, cilt.24, sa.7, ss.624-633, 2014 (SCI-Expanded, Scopus)
2013
201319. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
Cetin N., Balci-Hayta B., Gundesli H., KORKUSUZ P., PURALI N., TALİM B., et al.
JOURNAL OF MEDICAL GENETICS
, cilt.50, sa.7, ss.437-443, 2013 (SCI-Expanded, Scopus)
2013
201320. Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy
Balci-Hayta B., TALİM B., Dincer P., Topaloglu H.
NEUROMUSCULAR DISORDERS
, cilt.23, sa.1, ss.15-18, 2013 (SCI-Expanded, Scopus)
2011
201121. An efficient method for stable transfection of mouse myogenic C2C12 cell line using a nonviral transfection approach
Akyuz M. D., Hayta B., Dincer P. R.
TURKISH JOURNAL OF MEDICAL SCIENCES
, cilt.41, sa.5, ss.821-825, 2011 (SCI-Expanded)
2011
201122. BRIEF REPORT A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., Kanagawa M., de Bernabe D. B., Gundesli H., et al.
NEW ENGLAND JOURNAL OF MEDICINE
, cilt.364, sa.10, ss.939-946, 2011 (SCI-Expanded, Scopus)
2011
201123. Overexpression of amyloid beta precursor protein enhances expression and secretion of ST6Gal1 in C2C12 myogenic cell line
BALCI-HAYTA B., Erdem-Ozdamar S., DINCER P. R.
CELL BIOLOGY INTERNATIONAL
, cilt.35, sa.1, ss.9-13, 2011 (SCI-Expanded, Scopus)
2010
201024. Reprogramming of Human Umbilical Cord Stromal Mesenchymal Stem Cells for Myogenic Differentiation and Muscle Repair
Kocaefe C., Balci D., Hayta B., Can A.
STEM CELL REVIEWS AND REPORTS
, cilt.6, sa.4, ss.512-522, 2010 (SCI-Expanded)
2010
201025. Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
Gundesli H., TALİM B., KORKUSUZ P., Balci-Hayta B., Cirak S., Akarsu N. A., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.87, sa.6, ss.834-841, 2010 (SCI-Expanded, Scopus)
2010
201026. Auditory Brainstem Responses in Gap Junction Beta 2 (GJB2) 35delG Mutation Carriers
KÖSE A., Balci B., AKSOY S.
JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY
, cilt.6, sa.3, ss.353-359, 2010 (SCI-Expanded, Scopus)
2009
200927. Efficient transfection of mouse-derived C2C12 myoblasts using a matrigel basement membrane matrix.
Balci B., Dinçer P. R.
Biotechnology journal
, cilt.4, ss.1042-5, 2009 (SCI-Expanded, Scopus)
2008
200828. Linkage Analysis in a Large Primary Osteoporosis Family
Balci B., Yildiz B. O., Ofir R., Dincer P., BAYRAKTAR M.
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
, cilt.33, sa.4, ss.215-222, 2008 (SCI-Expanded, TRDizin)
2007
200729. Prenatal diagnosis of muscle-eye-brain disease
Balci B., Morris-Rosendahl D. J., Celebi A., Talim B., Topaloglu H., Dincer P. R.
PRENATAL DIAGNOSIS
, cilt.27, sa.1, ss.51-54, 2007 (SCI-Expanded, Scopus)
2006
200630. Calpain-3 mutations in Turkey
Balci B., Aurino S., Haliloglu G., Talim B., Erdem S., Akcoren Z., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.165, sa.5, ss.293-298, 2006 (SCI-Expanded, Scopus)
2005
200531. 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
Balci B., Gerceker F., Aksoy S., Sennaroglu G., Kalay E., Sennaroglu L., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.47, sa.3, ss.213-221, 2005 (SCI-Expanded, Scopus)
2005
200532. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
Balci B., Uyanik G., Dincer P. R., Gross C., Willer T., Talim B., et al.
NEUROMUSCULAR DISORDERS
, cilt.15, sa.4, ss.271-275, 2005 (SCI-Expanded, Scopus)
2004
200433. Beta-sarcoglycan gene mutations in Turkey.
Balci B., Wilichowski E., Haliloğlu G., Talim B., Aurino S., Kremer E., et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
, cilt.23, ss.154-8, 2004 (Scopus)
2003
200334. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan
Dincer P. R., Balci B., Yuva Y., Talim B., Brockington M., Dincel D., et al.
NEUROMUSCULAR DISORDERS
, cilt.13, sa.10, ss.771-778, 2003 (SCI-Expanded, Scopus)
2001
200135. A large consanguineous osteoporosis family with 20 affected individuals
Dincer P. R., YILDIZ O. B., Balci B., Bayraktar M.
BONE
, cilt.28, sa.5, 2001 (SCI-Expanded)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2019
20191. Children with Congenital Heart Diseases: Any Correlation between Mitochondrial Functions of Myocardium, Cardiac Markers, and Histopathological Changes?
Ucar Z., Aydinoglu A. T., AKBABA T. H., ÖNDER S. Ç., Balci-Peynircioglu B., Balci-Hayta B., et al.
Annual Clinical Congress of the American-College-of-Surgeons / 5th Annual Sessions of the Owen-H-Wangensteen-Scientific-Forum, San-Francisco, Kostarika, 27 - 31 Ekim 2019, cilt.229, (Özet Bildiri)
2019
20192. MAP1B upregulation and its involvement of microtubule stability in spinal muscular atrophy.
Bora G., Hensel N., Rademacher S., Koyunoğlu D., Sunguroğlu M., Aksu Mengeş E., et al.
44th FEBS Congress, Krakow, Polonya, 6 - 11 Temmuz 2019, ss.2-18, (Tam Metin Bildiri)
2019
20193. Differentially Expressed microRNA Profile in Skeletal Muscle Tissue of Sporadic ALS Patients
Bekircan-Kurt C. E., AKSU MENGEŞ E., Balci-Hayta B., Aydinoglu A. T., Erdem-Ozdamar S., Tan E.
71st Annual Meeting of the American-Academy-of-Neurology (AAN), Pennsylvania, Amerika Birleşik Devletleri, 4 - 10 Mayıs 2019, cilt.92, (Özet Bildiri)
2019
20194. In-Silico Methods to Identify Common MicroRNAs and Pathways of Neuromuscular Diseases
ÜNLÜ YAZICI M., AKSU MENGEŞ E., Ulum Y. Z. A., HAYTA B., Bakir-Gungor B.
27th Signal Processing and Communications Applications Conference (SIU), Sivas, Türkiye, 24 - 26 Nisan 2019, (Tam Metin Bildiri)
2018
20185. Low SMN Level Causes Alterations in Alpha Tubulin Detyrosination and Microtubule-associated protein 1B in Spinal Muscular Atrophy
Bora G., Rademacher S., Hensel N., Yurter H., Hayta B., Aksu Mengeş E., et al.
FEBS Advanced Lecture Course and 33rd European Cytoskeletal Forum Meeting on “Biology and pathology of cytoskeleton: the crossroads of three cytoskeletal systems., Praha, Çek Cumhuriyeti, 20 - 24 Ekim 2018, (Yayınlanmadı)
2016
20166. Activation of the mitochondrial unfolded protein responce pathway in C2C12 myoblast cell lin
Aksu Mengeş E., Talim B., Dinçer P. R., Hayta B.
ESHG, Barcelona, İspanya, 21 Mayıs 2016, ss.15, (Özet Bildiri)
2016
20167. A novel mutation in the desmin gene DES cause an autosomal recessive form of limb girdle muscular dystrophy type 2R without clear cut desminopathy pathology.
Hayta B., Puralı N., Tan M. E., Erdem Özdamar S., Talim B., Korkusuz P., et al.
ESHG, Barcelona, İspanya, 21 Mayıs 2016, ss.45, (Özet Bildiri)
2015
20158. Histopathological characteristics of muscular dystrophy caused by mutation in the nuclear envelope protein LAP1B
Kayman Kürekçi G., Talim B., Korkusuz P., Hayta B., Puralı N., Dinçer P. R.
7th UK Conference on the Nuclear Envelope in Disease and Chromatin Organization, Sheffield, Birleşik Krallık, 22 Haziran 2015, (Yayınlanmadı)
2013
20139. Torsin A-interacting protein 1/Lamina-associated polypeptide 1B in a form of limb-girdle muscular dystrophy: a novel gene related to nuclear envelopathies
Kayman Kürekçi G., Hayta B., Talim B., Puralı N., Dinçer P. R.
18. International Meeting of the World Muscle Society, California, Amerika Birleşik Devletleri, 05 Ekim 2013, ss.64, (Özet Bildiri)
2006
200610. The first prenatal diagnosis in Muscle-Eye-Brain Disease
Balci B., Celebi A., Talim B., Dincer P., Topaloglu H.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
2006
200611. Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) in Turkey
Balci B., Talim B., Akcoeren Z., Caglar M., Kale G., Topaloglu H., et al.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
2002
200212. Autosomal recessive limb-girdle muscular dystrophy with severe mental retardation: a new phenotype with glycosylation defects of alpha-dystroglycan
Dincer P. R., Balci B., Yuva Y., Talim B., Brockington M., Dincel D., et al.
7th International Congress of the World-Muscle-Society, Rotterdam, Hollanda, 2 - 05 Ekim 2002, cilt.12, ss.721, (Özet Bildiri)