Browsing by Author "Cangül, Hakan"
Now showing items 1-14 of 14
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Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ
Nicholas, Adeline K.; Serra, Eva Goncalves; Cangül, Hakan; Al-Yaarubi, Saif; Ullah, Irfan; Schoenmakers, Erik; Deeb, Asma; Habeb, Abdelhadi M.; Almaghamsi, Mohammad; Peters, Catherine; Nathwani, Nisha; Aycan, Zehra; Sağlam, Halil; Bober, Ece; Dattani, Mehul; Shenoy, Savitha; Murray, Philip G.; Babiker, Amir; Willemsen, Ruben; Thankamony, Ajay; Lyons, Greta; Irwin, Rachael; Padidela, Raja; Tharian, Kavitha; Davies, Justin Huw; Puthi, Vijith; Park, Soo-Mi; Massoud, Ahmed F.; Gregory, John W.; Albanese, Assunta; Pease-Gevers, Evelien; Martin, Howard; Brugger, Kim; Maher, Eamonn R.; Chatterjee, V. Krishna K.; Anderson, Carl A.; Schoenmakers, Nadia (Endocrine Society, 2016)Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes ... -
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
Gerlevik, Umut; Saygı, Ceren; Cangül, Hakan; Kutlu, Aslı; Çaralan, Erdal Fırat; Topçu, Yasemin; Özören, Nesrin; Sezerman, Osman Uğur (Public Library of Science, 2022)Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNHassociated FLNA mutations are female ... -
Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism
Aycan, Zehra; Cangül, Hakan; Muzza, Marina; Bas, Veysel N.; Fugazzola, Laura; Chatterjee, V. Krishna; Persani, Luca; Schoenmakers, Nadia (Oxford University Press Inc, 2017)Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result ... -
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Cangül, Hakan; Liao, Xiao-Hui; Schoenmakers, Erik; Kero, Jukka; Barone, Sharon; Srichomkwun, Panudda; Lwayama, Hideyuki; Serra, Eva G.; Sağlam, Halil; Eren, Erdal; Tarım, Ömer; Nicholas, Adeline K.; Zvetkova, Ilona; Anderson, Carl A.; Frankl, Fiona E. Karet; Boelaert, Kristien; Ojaniemi, Marja; Jaaskelainen, Jarmo; Patyra, Konrad; Lof, Christoffer; Williams, E. Dillwyn; Consortium, Ukk; Soleimani, Manoocher; Barrett, Timothy; Maher, Eamonn R.; Chatterjee, V. Krishna; Refetoff, Samuel; Schoenmakers, Nadia (American Society for Clinical Investigation Inc, 2018)Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show ... -
A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family
Cangül, Hakan; Doğan, Murat; Üstek, Duran (Galenos Publishing, 2015)Objective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine ... -
A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family
Cangül, Hakan; Aydın, Banu; Baş, Firdevs (Georg Thieme Verlag, 2015)Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of ... -
The investigation of genetic etiology in familial cases with congenital hypothyroidism
Kardelen Al, Aslı Derya; Işık, Fatma Büşra; Karakılıç Özturan, Esin; Sözügüzel, Mavi Deniz; Öztürk, Ayşe Pınar; Poyrazoğlu, Şükran; Parlayan, Cüneyd; Cangül, Hakan; Baş, Firdevs; Darendeliler, Feyza (Karger, 2019)Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this ... -
The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism
Cangül, Hakan; Demir, Korcan; Babayiğit, Ömür; Abacı, Ayhan; Böber, Ece (Galenos Publishing, 2015)Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause ... -
A novel missense KCNJ2 gene mutation associated with andersen tawil syndrome
Sözügüzel, Mavi Deniz; Işık, Fatma Büşra; Genç, Nimetullah Mete; Çaralan, E. F.; Doğru, Zübeyir; Akdeniz, Coşkun; Cangül, Hakan (Nature Publishing Group, 2019)... -
Strong similarities in Turkish and European patients diagnosed with APECED syndrome
Güçlü, Metin; Cangül, Hakan; Ersoy, Canan (Galenos Publishing, 2015)Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease which is caused by mutations in the autoimmune regulator (AIRE) gene, mapping to 21q22.3. We aimed to evaluate ...
