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233 results on '"Topaloglu O"'

19. Is there a Relationship between Serum IGF-1 and Thyroid Nodule, Thyroid or Ovarian Volume in Polycystic Ovarian Syndrome?

Author

I Şahin, Uzun M, Evren B, Guldogan E, Saim Yologlu, and Topaloglu O

Subjects
Notes and Comments, endocrine system, endocrine system diseases, Endocrine and Autonomic Systems, business.industry, Endocrinology, Diabetes and Metabolism, Thyroid, Physiology, Nodule (medicine), Context (language use), female genital diseases and pregnancy complications, Endocrinology, medicine.anatomical_structure, Medicine, medicine.symptom, business
Abstract

CONTEXT. Studies investigating the association between serum IGF-1, and thyroid nodule, ovarian or thyroid volume in polycystic ovarian syndrome (PCOS) are limited. OBJECTIVE. We aimed to analyze the association between serum IGF-1 level, and ovarian or thyroid volume, or thyroid nodule in PCOS. DESIGN. The study was performed between June 2017 and August 2019 as prospective design. SUBJECTS AND METHODS. Adult females with new-onset PCOS were included. The patients having comorbid illness, or using medication were excluded. Basic tests, thyroid and ovarian sonography were performed. The patients were grouped according to thyroid nodule(absent/present) and ovarian volume (

Published
2021

50. Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Author

Khandelwal, K., Boogaard, M. van den, Mehrem, S.L., Gebel, J., Fagerberg, C., Beusekom, E. van, Binsbergen, E. van, Topaloglu, O., Steehouwer, M., Gilissen, C., Ishorst, N., Rooij, I.A.L.M. van, Roeleveld, N., Christensen, K., Schoenaers, J., Berge, S.J., Murray, J.C., Hens, G., Devriendt, K., Ludwig, K.U., Mangold, E., Hoischen, A., Zhou, H., Dotsch, V., Carels, C.E.L., Bokhoven, H. van, Khandelwal, K., Boogaard, M. van den, Mehrem, S.L., Gebel, J., Fagerberg, C., Beusekom, E. van, Binsbergen, E. van, Topaloglu, O., Steehouwer, M., Gilissen, C., Ishorst, N., Rooij, I.A.L.M. van, Roeleveld, N., Christensen, K., Schoenaers, J., Berge, S.J., Murray, J.C., Hens, G., Devriendt, K., Ludwig, K.U., Mangold, E., Hoischen, A., Zhou, H., Dotsch, V., Carels, C.E.L., and Bokhoven, H. van

Abstract

Contains fulltext : 204872.pdf (publisher's version ) (Closed access), We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls using molecular inversion probes (MIPs). We identified partial deletions of TP63 in individuals from three families affected with OFC. In the OFC cohort, we identified several TP63 variants predicting to cause loss-of-function alleles, including a frameshift variant c.569_576del (p.(Ala190Aspfs*5)) and a nonsense variant c.997C>T (p.(Gln333*)) that introduces a premature stop codon in the DNA-binding domain. In addition, we identified the first missense variants in the oligomerization domain c.1213G>A (p.(Val405Met)), which occurred in individuals with OFC. This variant was shown to abrogate oligomerization of mutant p63 protein into oligomeric complexes, and therefore likely represents a loss-of-function allele rather than a dominant-negative. All of these variants were inherited from an unaffected parent, suggesting reduced penetrance of such loss-of-function alleles. Our data indicate that loss-of-function alleles in TP63 can also give rise to OFC as the main phenotype. We have uncovered the dosage-dependent functions of p63, which were previously rejected.

Published
2019

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