Zobrazeno 1 - 10 of 44 pro vyhledávání: '"Marian A J Weterman"'
1
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
Autor: Ron J W Witteveen, Camiel Verhamme, Ya-Ming Hou, Marianne de Visser, Marian A. J. Weterman, Molly E. Kuo, Susan Kenter, H.M.E. Bienfait, Frank Baas, Fred van Ruissen, Sara Gordillo, Stephanie N. Oprescu, Martijn H. Breuning, Anthony Antonellis, Dyah W Karjosukarso, Marieke Bronk, Ryuichi Takase
Publikováno v: Human Molecular Genetics, 27(23), 4036-4050
Human molecular genetics, 27(23), 4036-4050. Oxford University Press
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three nove
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f0177f14ec15a233ea757ca32c4a94
https://doi.org/10.1093/hmg/ddy290
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2
Deregulated expression ofEZH2in congenital brainstem disconnection
Autor: Eleonora Aronica, Eugen Boltshauser, Frank Baas, S. Fox, Marian A. J. Weterman, Peter G. Barth, Kees Fluiter, Andrea Poretti, Douglas C. Miller, Brian Harding, Mariarita Santi
Publikováno v: Neuropathology and Applied Neurobiology
Neuropathology and Applied Neurobiology, 43(4), 358-365
Neuropathology and applied neurobiology, 43(4), 358-365. Wiley-Blackwell
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15cd80810af607901e51f19bcf2c8d72
https://doi.org/10.1111/nan.12368
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3
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P
Autor: Johanna E. Hakonen, Marit B. de Wissel, Marian A. J. Weterman, Boris Bleijlevens, Ben Distel, Vincenzo Sorrentino, Marlene van den Berg, Rossella Avagliano Trezza, Fred van Ruissen, Noam Zelcer, Frank Baas
Publikováno v: Human Molecular Genetics, 26(11), 2034-2041. Oxford University Press
Human molecular genetics, 26(11), 2034-2041. Oxford University Press
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02dc6cffe1b8a130c47318df138695c
https://pure.eur.nl/en/publications/56cdcf31-140e-424f-9cd4-d6927b3d246e
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4
Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associatedMARK/Par1gene family as potential PJS candidates
Autor: Wendy W.J. de Leng, Alex R. Musler, Fred H. Menko, M. M. Polak, J J Keller, Anya N. A. Milne, Marian A. J. Weterman, Ralph Carvalho, Christine A. Iacobuzio-Donahue, G J A Offerhaus, Marnix Jansen, Felix W. M. de Rooij, Francis M. Giardiello
Publikováno v: Clinical genetics, 72(6), 568-573. Wiley-Blackwell
Clinical Genetics, 72(6), 568-573. Wiley-Blackwell Publishing Ltd
LKB1/STK11 germline inactivations are identified in the majority (66-94%) of Peutz-Jeghers syndrome (PJS) patients. Therefore, defects in other genes or so far unidentified ways of LKB1 inactivation may cause PJS. The genes encoding the MARK proteins
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134fc9d6d25bdf6ae53ed2c5de081517
https://doi.org/10.1111/j.1399-0004.2007.00907.x
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5
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance
Autor: Leo M. E. Smit, Richard H. Haas, Marten Kyllerman, Matthan W.A. Caan, Peter G. Barth, Charles B. Majoie, Frank Baas, Marian A. J. Weterman, Richard A. Kaplan, Bwee Tien Poll-The, Jan-Maarten Cobben
Publikováno v: Brain, 130(Part 9), 2258-2266. Oxford University Press
Four unrelated children are described with an identical brainstem and cerebellar malformation on MRI. The key findings are: vermal hypoplasia, subtotal absence of middle cerebellar peduncles, flattened ventral pons, vaulted pontine tegmentum, molar t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39ca75e230d97328baecb099455c5ea
https://doi.org/10.1093/brain/awm188
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6
Molecular analysis of primary gastric cancer, corresponding xenografts, and 2 novel gastric carcinoma cell lines reveals novel alterations in gastric carcinogenesis
Autor: Marjolijn J. L. Ligtenberg, Patrick Pauwels, Marian A. J. Weterman, Robert Sitarz, Ralph Carvalho, Anya N A Milne, G. Johan A. Offerhaus, M. M. Polak
Publikováno v: Human Pathology, 38, 6, pp. 903-13
Human Pathology, 38, 903-13
Human pathology, 38(6), 903-913. W.B. Saunders Ltd
Contains fulltext : 52642.pdf (Publisher’s version ) (Closed access) We report the molecular characterization of 8 primary gastric carcinomas, corresponding xenografts, and 2 novel gastric carcinoma cell lines. We compared the tumors and cell lines
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3b1e3f7f1f3a0af623fc13b2548825
https://doi.org/10.1016/j.humpath.2006.12.010
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7
Nasal polyposis in Peutz-Jeghers syndrome: a distinct histopathological and molecular genetic entity
Autor: Marian A J Weterman, Felix W. M. de Rooij, Anne Marie Westerman, Marnix Jansen, Francis M. Giardiello, J. H. Paul Wilson, J J Keller, G. Johan A. Offerhaus, Herman van Dekken, Wendy W J de Leng
Publikováno v: Journal of clinical pathology, 60(4), 392-396. BMJ Publishing Group
Journal of Clinical Pathology, 60(4), 392-396. BMJ Publishing Group
BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis syndrome of the gastrointestinal tract, caused by a germline STK11/LKB1 mutation. Nasal polyposis was described in the original report by Peutz. Recently, a mol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b2a95b2fabdd79b6898d1df5b13493
https://doi.org/10.1136/jcp.2005.036418
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8
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease
Autor: Frank Baas, H. Jurgen Schelhaas, Marialuisa Quadri, Bart P.C. van de Warrenburg, Vincenzo Bonifati, Rianne A. J. Esselink, Marian A. J. Weterman, Bastiaan R. Bloem, Marjolein B. Aerts
Publikováno v: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 3, 146-9
Annals of clinical and translational neurology, 3(2), 146-149. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 3, 2, pp. 146-9
Annals of Clinical and Translational Neurology, 3(2), 146-149. John Wiley & Sons Inc.
Contains fulltext : 168294.pdf (Publisher’s version ) (Open Access) LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mut
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfca99da9f208d42ea7a9ea89e5c8b6d
https://pubmed.ncbi.nlm.nih.gov/26900582
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9
A novel region of amplification at 11p12-13 in gastric cancer, revealed by representational difference analysis, is associated with overexpression of CD44v6, especially in early-onset gastric carcinomas
Autor: Anya N A Milne, Ralph Carvalho, G. Johan A. Offerhaus, Marian A J Weterman, M. M. Polak
Publikováno v: Genes, chromosomes & cancer, 45(10), 967-975. Wiley-Liss Inc.
Diffuse-type gastric carcinomas (GCs) are often difficult to characterize because of contamination of tumor samples by surrounding normal tissue. As such, information regarding chromosomal aberrations in this subtype of GCs is limited. In this study,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2752205562664321543c8cabb2723b79
https://doi.org/10.1002/gcc.20360
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10
Early-onset gastric carcinomas display molecular characteristics distinct from gastric carcinomas occurring at a later age
Autor: Ceu Figueiredo, Marian A J Weterman, Ralph Carvalho, Anya N A Milne, Luis Cirnes, G. Johan A. Offerhaus, Eric Caspers, Bastiaan P. van Rees
Publikováno v: Journal of pathology, 204(1), 75-83. John Wiley and Sons Ltd
Gastric cancer is thought to result from a combination of environmental factors and accumulation of specific genetic alterations, and consequently mainly affects older patients (>50 years of age). Fewer than 10% of patients present with the disease b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a11c13da0787b2821b3d6a9482fdcbc
https://doi.org/10.1002/path.1602
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