Results 81 to 90 of about 237,110 (353)

Exome Sequencing in Suspected Monogenic Dyslipidemias [PDF]

Circulation: Cardiovascular Genetics, 2015
Background— Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results— We performed exome sequencing on 213 selected family members
Stitziel, N., Peloso, G., Abifadel, M., CEFALU', Angelo Baldassare, Fouchier, S., Motazacker, M., Tada, H., Larach, D., Awan, Z., Haller, J., Pullinger, C., Varret, M., Rabès, J., NOTO, Davide, Tarugi, P., Kawashiri, M., Nohara, A., Yamagishi, M., Risman, M., Deo, R., Ruel, I., Shendure, J., Nickerson, D., Wilson, J., Rich, S., Gupta, N., Farlow, D., Neale, B., Daly, M., Kane, J., Freeman, M., Genest, J., Rader, D., Mabuchi, H., Kastelein, J., Hovingh, G., AVERNA, Maurizio, Gabriel, S., Boileau, C., Kathiresan, S.   +39 more
openaire   +6 more sources

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

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

Performance of Exome Sequencing for Pharmacogenomics [PDF]

Personalized Medicine, 2015
We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants.Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.Approximately 14% of the 1928 variant locations examined had inadequate depth of coverage (
Londin, Eric R, Clark, Peter, SPONZIELLO, Marialuisa, Kricka, Larry J, FORTINA, PAOLO, Park, Jason Y.   +5 more
openaire   +3 more sources

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

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

Frontiers in Genetics, 2019
Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown.
Lisa J. Martin, Lisa J. Martin, Valentina Pilipenko, D. Woodrow Benson   +3 more
doaj   +1 more source

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

Exome-Wide Meta-Analysis Identifies Rare 3′-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea

Frontiers in Genetics, 2017
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality.
Ashley van der Spek, Annemarie I. Luik, Desana Kocevska, Chunyu Liu, Chunyu Liu, Chunyu Liu, Rutger W. W. Brouwer, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Jeroen G. J. van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Robert Kraaij, Robert Kraaij, Albert Hofman, Albert Hofman, André G. Uitterlinden, André G. Uitterlinden, André G. Uitterlinden, Wilfred F. J. van IJcken, Daniel J. Gottlieb, Daniel J. Gottlieb, Daniel J. Gottlieb, Henning Tiemeier, Henning Tiemeier, Cornelia M. van Duijn, Najaf Amin   +26 more
doaj   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source