Zobrazeno 1 - 10
of 207
pro vyhledávání: '"L, Polla"'
Autor:
Corina-Marcela Rus, Daniel L. Polla, Sebastiano Di Bucchianico, Steffen Fischer, Jörg Hartkamp, Guido Hartmann, Yunus Alpagu, Claudia Cozma, Ralf Zimmermann, Peter Bauer
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available. Employing a
Externí odkaz:
https://doaj.org/article/a4eb1fdcd139490db9d7a183dbaa6e1a
Autor:
Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in
Externí odkaz:
https://doaj.org/article/5ee9dcf0681b434dab3ff066e6565c4e
Autor:
Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz
Publikováno v:
American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet
© 2021 American Society of Human Genetics
EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded prot
EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded prot
Autor:
Daniel L Polla, Maria T O Cardoso, Mayara C B Silva, Isabela C C Cardoso, Cristina T N Medina, Rosenelle Araujo, Camila C Fernandes, Alessandra M M Reis, Rosangela V de Andrade, Rinaldo W Pereira, Robert Pogue
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138314 (2015)
Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic
Externí odkaz:
https://doaj.org/article/b6f635b42eec4e8c98d98c6fe7f06637
Autor:
Ellen van Beusekom, Andrea K. Petersen, Alireza Sedaghat, Amir Sherafat, Henry Houlden, Mohammad Yahya Vahidi Mehrjardi, Laila Selim, Nihal M. Al Menabawy, Stephanie Efthymiou, Ender Karaca, Mohammadreza Dehghani, Alper Gezdirici, Neda Mazaheri, Reza Azizi Malamiri, Vincenzo Salpietro, Valentina Stanley, Leslie Durham, Christopher A. Walsh, Caroline Dias, Lieke L.M. Schaeken, James R. Lupski, Reza Maroofian, Hamid Galehdari, Selina Banu, Jaya Punetha, Edward Yang, Davut Pehlivan, Zeynep Coban-Akdemir, Elena Seiradake, Jennifer E. Posey, Maryam Najafi, Gholamreza Shariati, Joseph G. Gleeson, Céline Zheng, Jamileh Rezazadeh Varaghchi, Hans van Bokhoven, Daniel L. Polla, Jennifer N. Partlow, Jennifer Keller-Ramey, Tadahiro Mitani, Abolfazl Rad, Valeria V. Orlova, Shalini N. Jhangiani
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 105, 5, pp. 1048-1056
American Journal of Human Genetics, 105, 1048-1056
American Journal of Human Genetics, 105, 5, pp. 1048-1056
American Journal of Human Genetics, 105, 1048-1056
NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosit
Autor:
Daniel L. Polla, Sirous Zeinali, Nina A. Demina, Majid Yavarian, Stylianos E. Antonarakis, Sandra von Hardenberg, Saima Riazuddin, Filomena Pirozzi, Sven Hethey, Zubair M. Ahmed, Leah Fleming, Jacek Pilch, John Condie, Vasilina S. Sergeeva, Mohammad Ali Faghihi, Nael Nadif Kasri, Shima Bahramjahan, Neelam Fatima, Periklis Makrythanasis, Muhammad Ansar, Alena L. Chukhrova, Anke K. Bergmann, Hanka Venselaar, Mohsin Shahzad, Arjan P.M. de Brouwer, Mohammad Ali Farazi Fard, Hans van Bokhoven, Ghayda M. Mirzaa, Mohammad-Sadegh Fallah, Hennie T. Brüggenwirth, Olga Levchenko, Laura Donker Kaat, Afsaneh Taghipour Sheshdeh, Pooneh Nikuei, Amira Masri, Mureed Hussain, Agnieszka Pollak, Federico Santoni, Katrin Linda, Alexander Lavrov, Fareeha Fatima, Ebrahim Eftekhar, Hanan Hamamy, Gaia Ruggeri, Sheikh Riazuddin, Zahra Tabatabaei, Janneke H M Schuurs-Hoeijmakers, Rafał Płoski, Parham Habibzadeh, Mohammad Silawi
Publikováno v:
Genetics in Medicine, 23(7), 1246-1254. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med
Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder. Methods: A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Qua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3f5a9e869e71a7190c0baaa8bc7696
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76
Autor:
Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe
Publikováno v:
Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652
Contains fulltext : 234992.pdf (Publisher’s version ) (Closed access) PURPOSE: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992
https://repository.ubn.ru.nl/handle/2066/234992
Autor:
Paul Kruszka, Sreehari Kalvakuri, Austin Larson, Dong Li, Inge van Outersterp, Florence Demurger, Ian Hayes, F. Lucy Raymond, Lauren J. Massingham, Claudia A. L. Ruivenkamp, Ian D. Krantz, Kendra Brunet, Nicole Revencu, Maaike Vreeburg, Donatella Milani, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Maximilian Muenke, Sinje Geuer, Candace Gamble, Rolf Bodmer, Hanka Venselaar, Elke de Boer, Sarina G. Kant, Dilys Weijers, Arjan P.M. de Brouwer, Machteld M. Oud, Maria Iascone, Christopher C. Griffith, Frédéric Tran Mau-Them, Karin Weiss, Megan T. Cho, Ayesha Ahmad, James A. Bartley, Nina Powell Hamilton, Lenika De Simone, George E. Hoganson, Lucie Evenepoel, Simone Kersten, Daniel L. Polla, Himanshu Goel, Antonio Vitobello, Rachel Fisher, Arthur Sorlin, Sébastien Moutton, Myrthe van den Born, Hilary J. Vernon, Michael Kwint, Kaitlyn Burns, Anna Ruiz, Kirsty McWalter, Jenny Morton, Jennifer Schwab, Elizabeth J. Bhoj, Philippe Christophe, Hans van Bokhoven, Elisabeth Gabau, Kimberly M. Nugent, Jill R. Murrell, Thierry Billette de Villemeur, Kathleen Wood, Alexandra Afenjar, Amber Begtrup, Chanika Phornphutkul, Sarah E. Raible, Melde Witmond, Perrine Charles, Claudia Soler-Alfonso, D. Isum Ward, Marjolaine Willems, Boris Keren, Julian Delanne
Publikováno v:
Am J Hum Genet
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
American Journal of Human Genetics, 107(1), 164-172. Cell Press
American Journal of Human Genetics, 107(1), 164-172. CELL PRESS
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 164-172
American Journal of Human Genetics, 107, 1, pp. 164-172
American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)
American Journal of Human Genetics, 107(1), 164-172. Cell Press
American Journal of Human Genetics, 107(1), 164-172. CELL PRESS
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 164-172
American Journal of Human Genetics, 107, 1, pp. 164-172
Contains fulltext : 220423.pdf (Publisher’s version ) (Closed access) CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals
Publikováno v:
Materials for Quantum Technology. 2:013002
The materials challenge is often a major hurdle for translating good ideas in science into technologies. This is no different in the arena of quantum technologies which has seen a resurgence of interest in the last decade. This perspective provides a
Autor:
F. Lucy Raymond, Lonneke de Boer, Michal Minczuk, Rami Abou Jamra, Nadja Dinges, Modi Safra, Zubair M. Ahmed, Detilina Grozeva, Hans van Bokhoven, Pedro Rebelo-Guiomar, Mohsin Shahzad, Clara Soyris, Violeta Morin, Mureed Hussain, Nadine Körtel, Michael Stock, Saima Riazuddin, Daniel L. Polla, Jean-Yves Roignant, Arjan P.M. de Brouwer, Avia Zisso, André Reis, Schraga Schwartz, Christopher A. Powell, David A. Koolen, Sheikh Riazuddin, Rolph Pfundt, Franziska Schwarz
Publikováno v:
The American Journal of Human Genetics
American Journal of Human Genetics, 103, 1045-1052
American Journal of Human Genetics, 103, 6, pp. 1045-1052
American Journal of Human Genetics, 103, 1045-1052
American Journal of Human Genetics, 103, 6, pp. 1045-1052
We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs(∗)20), c.1348C>T (p.Arg450(∗)), and a deletion of the penultimate exon 15. All these individuals have intellectual dis