Results 81 to 90 of about 178,713 (349)

The driver landscape of sporadic chordoma. [PDF]

, 2017
Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T)
Alexandrov, Ludmil B, Amary, M Fernanda, Bashashati, Ali, Baumhoer, Daniel, Behjati, Sam, Brandner, Sebastian, Butler, Adam P, Campbell, Peter J, Cogswell, Patricia, Dickson, Brendan, Farndon, Sarah J, Flanagan, Adrienne M, Futreal, P Andrew, Guzzo, Charlotte, Hardy, Claire, Huntsman, David, Jamshidi, Farzad, Latimer, Calli, Martincorena, Inigo, Nielsen, Torsten O, Phillips, Joanna J, Pillay, Nischalan, Shah, Sohrab, Shlien, Adam, Sommer, Josh, Stratton, Michael R, Tarpey, Patrick S, Teague, Jon W, Tirabosco, Roberto, Wunder, Jay, Yip, Stephen, Young, Matthew D   +31 more
core   +2 more sources

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data [PDF]

, 2021
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Hidde H. Huidekoper, Janneke G. Langendonk, Martina Wilke, Walter de Valk, Henk J. Blom, Marcel J.T. Reinders, George J. G. Ruijter   +9 more
openalex   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]

, 2015
BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar, Ali, Nadir, Ambalavanan, Amirthagowri, Amin-ud-Din, Muhammad, Ansar, Muhammad, Ayaz, Muhammad, Ayub, Muhammad, Brohi, Muhammad Qasim, Caron, Chantal, Christian, Mehtab, Egger, Gerald, Fennell, Alanna, Forgeot d'Arc, Baudouin, Johnson, Amelie, Khan, Falak Sher, Laurent, Sandra, Leblond, Claire S, Mahmood, Huda, Mottron, Laurent, Nanjiani, Zohair, Rafiq, Muhammad Arshad, Rasheed, Saima, Saqib, Muhammad Arif Nadeem, Shaheen, Naseema, So, Joyce, Spiegelman, Dan, Vincent, Akshita K, Vincent, John B, Waqas, Ahmed, Xiong, Lan   +29 more
core   +2 more sources

Refractory Status Epilepticus Treated With Bilateral Pulvinar Deep Brain Stimulation—A Case Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional ...
Mengxuan Tang, Amerta Bai, Felipe Rodridgues Marques Ferreira, Sandipan Pati, Thaddeus Walczak, Benjamin Miller, Oladi Bentho, Thomas Henry, Ilo Leppik, Minoo Shams, Zhiyi Sha, Zachary Sanger, Theoden I. Netoff, Thomas Lisko, Anant Naik, Robert McGovern III, Sima Patel   +16 more
wiley   +1 more source

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
core   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis

Orphanet Journal of Rare Diseases
Background Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services
Wangji Zhou, Yixuan Li, Haixia Zheng, Miao He, Miaoyan Zhang, Qiaoling Chen, Christopher Situ, Yaqi Wang, Ting Zhang, Keqi Chen, Jinrong Dai, Shuzhen Meng, Xueqi Liu, Aohua Wu, Yaping Liu, Kai-Feng Xu, Xinlun Tian, Xue Zhang   +17 more
doaj   +1 more source

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. [PDF]

, 2019
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
A Butler, A Lalazar, A Llado, Aaron P. Schultz, Ana Baena, Arabiye Artola, AS Fleisher, Claudia Marino, D Smedley, Daniel J. Norton, David Aguillon, David Leyton-Cifuentes, DC Aguirre-Acevedo, Dhanesh Amarnani, DM Walsh, DT Chien, E Hudry, EC Mormino, Edmarie Guzmán-Vélez, EH Corder, Enmanuelle Pardilla-Delgado, Eric M. Reiman, Francisco Lopera, Gyungah R. Jun, H Braak, H Braak, Henrik Zetterberg, J Logan, JA Becker, Ji Luo, JI Velez, Jianling Ji, JN Rauch, John B. Miller, Joseph F. Arboleda-Velasquez, Juliana Acosta-Uribe, Justin S. Sanchez, KA Johnson, Kahira L. Saez-Torres, Kaj Blennow, Keith A. Johnson, Kenneth S. Kosik, Kewei Chen, L Wang, L Zhong, Leo A. Kim, Lishuang Shen, M Futamura, M Gisslén, MA Lalli, Marcus Naymik, Margarita Giraldo, Matthew J. Huentelman, Matthew Lalli, Michael O’Hare, Moiz Bootwalla, MR Wardell, N Acosta-Baena, Natalia Chmielewska, O Preische, Pierre N. Tariot, Pradeep Thiyyagura, Rebecca A. Reiman, Reisa A. Sperling, RW Mahley, S Fisher, S Thordardottir, Santiago Delgado-Tirado, Silvia Rios-Romenets, T Hashimoto, T Hashimoto, T Hedden, TM Shoup, WD Knight, Xiaowu Gai, Y Yamauchi, Yakeel T. Quiroz, Yi Su, Yinghua Chen, YT Quiroz   +79 more
core   +3 more sources

A Patient‐Derived Organoid Biobank of Adamantinomatous Craniopharyngioma as a Platform for Drug Discovery

Advanced Science, EarlyView.
This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang, Chaohu Wang, Jun Fan, Zexin Chen, Haoying Yu, Yawen Bai, Tingcheng Zhang, Qianchao Zhu, Yiwen Feng, Peirong Niu, Jiaqian Chen, Liping Yang, Xueying Li, Lei Yu, Songtao Qi, Yi Liu   +15 more
wiley   +1 more source