Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy [version 1; referees: 2 approved]

Autor: Chris D. Balak, Jesse M. Hunter, Mary E. Ahearn, David Wiley, Gennaro D'urso, Lisa Baumbach-Reardon

Publikováno v: F1000Research, Vol 6 (2017)

Background: X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affectin

Externí odkaz: https://doaj.org/article/78eeee3cbf8245818e7a911b5e49f9de

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification

Autor: Lisa Baumbach-Reardon, Chris Balak, Jesse M. Hunter, Mary Ellen Ahearn, Judith G. Hall, Jeff Kiefer, Sonya Jooma

Publikováno v: American Journal of Medical Genetics Part A. 167:931-973

The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8707b092c7c434cc1f95afe7965c98d4
https://doi.org/10.1002/ajmg.a.36934

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Autor: Alleene V. Strickland, Michela D’Aloia, Michael A. Gonzalez, Jia Huang, Mark T. Rogers, James W. Connell, Ludger Schöls, Stephan Züchner, Hiroyuki Ishiura, Gladys Montenegro, Lisa Baumbach-Reardon, Shoji Tsuji, Jeffery M. Vance, Justin Price, Tine Deconinck, Margaret A. Pericak-Vance, Carla Babalini, Pasqua Montieri, Rachel Allison, Giorgio Bernardi, Rebecca Schüle, Adriana P. Rebelo, Antonio Orlacchio, Evan Reid, Peter De Jonghe

Publikováno v: The journal of clinical investigation
The Journal of clinical investigation 122 (2012): 538–544. doi:10.1172/JCI60560
info:cnr-pdr/source/autori:Montenegro G.; Rebelo A.P., Connell J.; Allison R.; Babalini C.; D'Aloia M.; Montieri P.; Schüle R.; Ishiura H.; Price J.; Strickland A.; Gonzalez M.A.; Baumbach-Reardon L.; Deconinck T.; Huang J.; Bernardi G.; Vance J.M.; Rogers M.T.; Tsuji S.; De Jonghe P.; Pericak-Vance M.A.; Schöls L.; Orlacchio A.; Reid E.; Züchner S./titolo:Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12/doi:10.1172%2FJCI60560/rivista:The Journal of clinical investigation/anno:2012/pagina_da:538/pagina_a:544/intervallo_pagine:538–544/volume:122
The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560

Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79adc26c3da7a07c507da53f4135f3af
https://doi.org/10.1172/jci60560

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Autor: Alfons Meindl, Rita K. Schmutzler, Michael von Rhein, Eric P. Hoffman, Kemal O. Yariz, Lisa Baumbach-Reardon, Peter Lichtner, Robin D. Clark, Juliane Ramser, Claus Lenski, Heide Hellebrand, Mary Ellen Ahearn

Publikováno v: The American Journal of Human Genetics. 82:188-193

X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4455f0a58f39a5ed649ddd88f4c0c2a6
https://doi.org/10.1016/j.ajhg.2007.09.009

Abstract 5271: Optimization and detection of focal somatic copy number variants in whole genome, whole exome and panel sequencing for tumor/normal matched pairs and tumor only analysis

Autor: Lisa Baumbach-Reardon, John D. Carpten, Jonathan J Keats, Winnie S. Liang, Austin Christofferson, David Craig, Jessica Aldrich

Publikováno v: Cancer Research. 76:5271-5271

Often in the clinical setting, tumor samples may be derived from historical tissue or from fresh frozen tissue and it may not be feasible to obtain normal tissue from the individual. Comparing unmatched tissues from different individuals possess a un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e80a2dfa00b9fb7f96a706a93dc7d9b
https://doi.org/10.1158/1538-7445.am2016-5271