Chromosomal findings and sequence analysis of target exons of calcium-sensing receptor (CaSR) gene in patients with Sagliker syndrome

Tunc E., DEMİRHAN O., Sagliker Y., YILDIZ I., Paylar N., Guzel A. İ.

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.47, sa.1, ss.13-21, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.3906/sag-1507-102
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.13-21
  • Anahtar Kelimeler: Sagliker syndrome, CaSR gene, chromosomal abnormalities, chronic kidney disease, nucleotide alterations, CHRONIC KIDNEY-DISEASE, HUMAN FACE APPEARANCE, SEVERE SECONDARY HYPERPARATHYROIDISM, IN-SITU HYBRIDIZATION, CHRONIC-RENAL-FAILURE, FAMILIAL HYPOCALCIURIC HYPERCALCEMIA, NEONATAL SEVERE HYPERPARATHYROIDISM, MESSENGER-RIBONUCLEIC-ACID, CA2+-SENSING RECEPTOR, JUVENILE NEPHRONOPHTHISIS
  • Recep Tayyip Erdoğan Üniversitesi Adresli: Evet

Özet

Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3.