Browsing by Author "Karkucak, M."

Now showing 1 - 3 of 3

Clinical effect of a mutation (p.Glu322Asp, c.966 G>T) in pank2 gene in a family with atypical pantothenate kinase-associated neurodegeneration
(Medecine Et Hygiene, 2016-01-01) Ayas, Z. Ozozen; Karkucak, M.; Öcal, R. Öncel; Yakut, Tahsin; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi; GIS-1493-2022
Clinical effect of a mutation (p.glut322asp, c.966 G>T) in PANK2 gene in a family with atypical pantothenate kinase-associated neurodegeneration: Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder caused by mutations in the pantothenate kinase 2 (PANK2) gene. Many different mutations in the PANK2 gene have been detected in association with PKAN. A 20 year old female patient who had been suffering from progressive gait disorder for 1 year was found to have the 'eye-of-the-tiger sign' from the brain magnetic resonance imaging (MRI). The same brain imaging findings were shown in the father and brother of the patient, whose parents arranged a consanguineous marriage. We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings.
Does oxytocin receptor gene polymorphism play a role in the social functioning of children with attention-deficit/hyperactivity disorder
(Springer, 2015-06-01) Ayaz, A.; Karkucak, M.; Ayaz, M.; Gökce, S.; Kayan, E.; Güler, E. Erol; Güngen, B. Doğan; Yıldız, T.; Ocakoğlu, G.; Yakut, T.; OCAKOĞLU, GÖKHAN; HLG-6346-2023
Sry-negative xx sex reversal in an english cocker spaniel: A case report
(Czech Academy Agricultural Sciences, 2015-01-01) Shahzad, A. H.; Nak, D.; NAK, DENİZ; Gülten, T.; Karkucak, M.; Yılmaz, R.; Nak, Y.; NAK, YAVUZ; Şimşek, G.; Bursa Uludağ Üniversitesi/Veterinerlik Fakültesi; 0000-0002-0944-2230; 0000-0002-8623-8292; ABG-8940-2020; AAH-5494-2021
A SRY-negative XX male describes a female karyotype with testicular tissue resulting from abnormal gonadal development. In such cases male gonad formation takes place in the absence of a Y chromosome which supports the hypothesis that some other genes are also responsible for testicular development. The present case report describes a one-year-old dog brought to the hospital with a complaint of no oestrus cycle. Apparently normal masculine bitch had an enlarged clitoris with an os on radiograph. A gonado-hysterectomy was performed. Instead of ovarian structures both testicular masses were present and a normal complete bicornuate uterus with a normal cervix was observed. The histology of both gonads showed two testes, each with its ductus deferens and the uterus with typical histological structure. Cytogenetic evaluation of peripheral blood lymphocytes revealed a female with a normal karyotype (78, XX). Polymerase chain reaction (PCR) analysis of genomic DNA showed that the SRY gene was absent.