Zobrazeno 1 - 10
of 168
pro vyhledávání: '"A Ercan Sencicek"'
Autor:
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan‐Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Backgrounds While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods We recruited 73 CHD probands from consanguineous f
Externí odkaz:
https://doaj.org/article/39b2f4ecf67e4a60a85026ddb21fc06b
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Abstract Brown adipose tissue (BAT) is the primary non-shivering thermogenesis organ in mammals, which plays essential roles in maintaining the body temperature of infants. Although the development of BAT during embryogenesis has been well addressed
Externí odkaz:
https://doaj.org/article/467619470df544eb8f9d2a6ca2bf71f3
Autor:
Hande Kaymakcalan, İlyas Kaya, Nagihan Cevher Binici, Emrah Nikerel, Burcu Özbaran, Mehmet Görkem Aksoy, Seda Erbilgin, Gonca Özyurt, Noor Jahan, Didem Çelik, Kanay Yararbaş, Leyla Yalçınkaya, Sezen Köse, Sibel Durak, Adife Gulhan Ercan‐Sencicek
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalen
Externí odkaz:
https://doaj.org/article/723c7d13b4c54af78267e57826ff1ebd
Autor:
Abelson, Jesse F., Kwan, Kenneth Y., O'Roak, Brian J., Baek, Danielle Y., Stillman, Althea A., Morgan, Thomas M., Mathews, Carol A., Pauls, David L., Rašin, Mladen-Roko, Gunel, Murat, Davis, Nicole R., Ercan-Sencicek, A. Gulhan, Guez, Danielle H., Spertus, John A., Leckman, James F., Dure, Leon S., Kurlan, Roger, Singer, Harvey S., Gilbert, Donald L., Farhi, Anita, Louvi, Angeliki, Lifton, Richard P., Šestan, Nenad, State, Matthew W.
Publikováno v:
Science, 2005 Oct . 310(5746), 317-320.
Externí odkaz:
https://www.jstor.org/stable/3842662
Autor:
Yunan Gao, Yan Sun, Adife Gulhan Ercan-Sencicek, Justin S. King, Brynn N. Akerberg, Qing Ma, Maria I. Kontaridis, William T. Pu, Zhiqiang Lin
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 6649 (2021)
Toll-like receptors (TLRs) are a family of pattern recognition receptors (PRRs) that modulate innate immune responses and play essential roles in the pathogenesis of heart diseases. Although important, the molecular mechanisms controlling cardiac TLR
Externí odkaz:
https://doaj.org/article/f32e77e5ebb7447b97b04d4df4841358
Autor:
Abha R. Gupta, Alexander Westphal, Daniel Y. J. Yang, Catherine A. W. Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C. Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V. Fernandez, A. Gulhan Ercan-Sencicek, Michael F. Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R. Volkmar, Kevin A. Pelphrey
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-17 (2017)
Abstract Background Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Alth
Externí odkaz:
https://doaj.org/article/e3a20041f8344991bd674cd9f3162b1d
Akademický článek
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Autor:
Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K. Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Baran, Leman Sencar, Nukte Goc, Yanki Yarman, A. Gulhan Ercan-Sencicek, Kaya Bilguvar, Richard P. Lifton, Jennifer Moliterno, Angeliki Louvi, Shiaulou Yuan, Engin Deniz, Martina Brueckner, Murat Gunel
Publikováno v:
Proceedings of the National Academy of Sciences. 120
While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in
Autor:
Samur, Bahadir M., Ercan-Sencicek, Gulhan A., Gumus, Hakan, Gumus, Gulsum, Baykan, Ali, Caglayan, Ahmet Okay, Per, Huseyin
Publikováno v:
Journal of Pediatric Neurology; Oct2023, Vol. 21 Issue 5, p371-376, 6p
Akademický článek
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