Prof. Dr. BURCU BALCI

Yayın Ağı

Makaleler 35

1. 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)

2. 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)

3. 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)

4. 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)

5. 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)

6. 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) Sürdürülebilir Kalkınma

7. 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)

8. 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)

9. 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) Sürdürülebilir Kalkınma

10. 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)

11. 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) Sürdürülebilir Kalkınma

12. **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) Sürdürülebilir Kalkınma

13. 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) Sürdürülebilir Kalkınma

14. 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)

15. 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)

16. 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)

17. 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)

18. **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)

19. 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) Sürdürülebilir Kalkınma

20. 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) Sürdürülebilir Kalkınma

21. 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)

22. 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)

23. 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) Sürdürülebilir Kalkınma

24. 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) Sürdürülebilir Kalkınma

25. **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)

26. 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)

27. 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)

28. 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) Sürdürülebilir Kalkınma

29. 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) Sürdürülebilir Kalkınma

30. 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) Sürdürülebilir Kalkınma

31. 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) Sürdürülebilir Kalkınma

32. **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) Sürdürülebilir Kalkınma

33. 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)

34. 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)

35. 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 12

1. 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)

2. 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)

3. 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)

4. 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)

5. 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)