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Mohammad Shboul
Mohammad Shboul
Professor (assistant) of Human Genetics and Molecular Biology, Department of Medical Laboratory
Verifierad e-postadress på reversade.com
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Mutations in PYCR1 cause cutis laxa with progeroid features
B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ...
Nature genetics 41 (9), 1016-1021, 2009
2612009
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
2262011
Genome-wide CRISPR-Cas9 screen identifies leukemia-specific dependence on a pre-mRNA metabolic pathway regulated by DCPS
T Yamauchi, T Masuda, MC Canver, M Seiler, Y Semba, M Shboul, ...
Cancer cell 33 (3), 386-400. e5, 2018
1252018
Katanin p80 regulates human cortical development by limiting centriole and cilia number
WF Hu, O Pomp, T Ben-Omran, A Kodani, K Henke, GH Mochida, ...
Neuron 84 (6), 1240-1257, 2014
1112014
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling
J Tian, L Ling, M Shboul, H Lee, B O'Connor, B Merriman, SF Nelson, ...
The American Journal of Human Genetics 87 (6), 768-778, 2010
1082010
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
E Pohler, O Mamai, J Hirst, M Zamiri, H Horn, T Nomura, AD Irvine, ...
Nature genetics 44 (11), 1272-1276, 2012
1002012
Gmnc is a master regulator of the multiciliated cell differentiation program
F Zhou, V Narasimhan, M Shboul, YL Chong, B Reversade, S Roy
Current Biology 25 (24), 3267-3273, 2015
892015
C5orf42 is the major gene responsible for OFD syndrome type VI
E Lopez, C Thauvin-Robinet, B Reversade, NE Khartoufi, L Devisme, ...
Human genetics 133, 367-377, 2014
882014
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
C Bonnard, AC Strobl, M Shboul, H Lee, B Merriman, SF Nelson, ...
Nature genetics 44 (6), 709-713, 2012
872012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported …
M Kroos, M Hoogeveen‐Westerveld, H Michelakakis, R Pomponio, ...
Human mutation 33 (8), 1161-1165, 2012
852012
Long-term culture of self-renewing pancreatic progenitors derived from human pluripotent stem cells
J Trott, EK Tan, S Ong, DM Titmarsh, SLIJ Denil, M Giam, CK Wong, ...
Stem cell reports 8 (6), 1675-1688, 2017
652017
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
PH Chia, FL Zhong, S Niwa, C Bonnard, KH Utami, R Zeng, H Lee, ...
Elife 7, e32451, 2018
602018
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach
M Zimoń, E Battaloğlu, Y Parman, S Erdem, J Baets, E De Vriendt, ...
neurogenetics 16, 33-42, 2015
462015
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
CKL Ng, M Shboul, V Taverniti, C Bonnard, H Lee, A Eskin, SF Nelson, ...
Human Molecular Genetics 24 (11), 3163-3171, 2015
382015
Loss-of-function mutations in LGI4, a secreted ligand involved in Schwann cell myelination, are responsible for arthrogryposis multiplex congenita
S Xue, J Maluenda, F Marguet, M Shboul, L Quevarec, C Bonnard, ...
The American Journal of Human Genetics 100 (4), 659-665, 2017
292017
Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex
JN Jodoin, P Sitaram, TR Albrecht, SB May, M Shboul, E Lee, ...
Molecular biology of the cell 24 (18), 2954-2965, 2013
272013
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
C Bonnard, M Shboul, SH Tonekaboni, AYJ Ng, S Tohari, K Ghosh, A Lai, ...
European journal of medical genetics 61 (10), 585-595, 2018
252018
Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry
JN Jodoin, M Shboul, P Sitaram, H Zein-Sabatto, B Reversade, E Lee, ...
Molecular Biology of the Cell 23 (24), 4713-4724, 2012
252012
Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization
CJ Cain, N Gaborit, W Lwin, E Barruet, S Ho, C Bonnard, H Hamamy, ...
Bone reports 5, 86-95, 2016
242016
Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged–Notch signaling in fin and limb development
J Tian, J Shao, C Liu, HY Hou, CW Chou, M Shboul, GQ Li, M El-Khateeb, ...
Cellular and molecular life sciences 76, 163-178, 2019
232019
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Artiklar 1–20