DE eng

Search in the Catalogues and Directories

Hits 1 – 20 of 20

1
DAMO-NLP at SemEval-2022 Task 11: A Knowledge-based System for Multilingual Named Entity Recognition ...
BASE
Show details
2
Risk Minimization for Zero-shot Sequence Labeling ...
BASE
Show details
3
Diversifying Dialog Generation via Adaptive Label Smoothing ...
BASE
Show details
4
Towards Emotional Support Dialog Systems ...
BASE
Show details
5
Multi-View Cross-Lingual Structured Prediction with Minimum Supervision ...
BASE
Show details
6
Generalized Supervised Attention for Text Generation ...
BASE
Show details
7
Structure-Level Knowledge Distillation For Multilingual Sequence Labeling ...
Wang, Xinyu; Jiang, Yong; Bach, Nguyen. - : arXiv, 2020
BASE
Show details
8
Second-Order Unsupervised Neural Dependency Parsing ...
BASE
Show details
9
A Survey of Unsupervised Dependency Parsing ...
BASE
Show details
10
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Pallais, Juan; McDonald, Marie; Freedman, Sharon; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany; Hopkin, Robert; Trimouille, Aurelien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Geneviève, David; Argilli, Emanuela; Sherr, Elliott; Severino, Mariasavina; Rouleau, Guy; Yam, Patricia; Charron, Frédéric; Srour, Myriam; Acosta, Maria; Adams, David; Agrawal, Pankaj; Alejandro, Mercedes; Allard, Patrick; Alvey, Justin; Andrews, Ashley; Ashley, Euan; Azamian, Mahshid; Bacino, Carlos; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Barbouth, Deborah; Batzli, Gabriel; Bayrak-Toydemir, Pinar; Beggs, Alan,; Bejerano, Gill; Bellen, Hugo; Bernstein, Jonathan; Bican, Anna; Bick, David; Birch, Camille; Bivona, Stephanie; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden,; Bostwick, Bret; Botto, Lorenzo; Briere, Lauren; Brokamp, Elly; Brown, Donna; Brush, Matthew; Burke, Elizabeth; Burrage, Lindsay; Butte, Manish; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary; Coakley, Terra; Cobban, Laurel; Cogan, Joy; Cole, F. Sessions; Colley, Heather; Cooper, Cynthia; Cope, Heidi; Craigen, William; D’Souza, Precilla; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti; Dell’Angelica, Esteban; Dhar, Shweta; Dorrani, Naghmeh; Dorset, Daniel; Douine, Emilie; Draper, David; Duncan, Laura; Eckstein, David; Emrick, Lisa; Eng, Christine; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos,; Fieg, Elizabeth; Fisher, Paul; Fogel, Brent; Forghani, Irman; FRESARD, Laure; Gahl, William; Godfrey, Rena; Goldman, Alica; Goldstein, David; Gourdine, Jean-Philippe; Grajewski, Alana; Groden, Catherine; Gropman, Andrea; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil,; Hayes, Nichole; High, Frances; Holm, Ingrid; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean; Jones, Angela; Karaviti, Lefkothea; Kelley, Emily; Kiley, Dana; Koeller, David; Kohane, Isaac; Kohler, Jennefer; Krakow, Deborah; Krasnewich, Donna; Korrick, Susan; Koziura, Mary; Krier, Joël; Kyle, Jennifer; Lalani, Seema; Lam, Byron; Lanpher, Brendan; Lanza, Ian; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan; Lee, Hane; Levitt, Roy; Levy, Shawn,; Lewis, Richard; Lincoln, Sharyn; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra,; Loscalzo, Joseph; Maas, Richard; Macnamara, Ellen; MacRae, Calum; Maduro, Valerie; Majcherska, Marta; Malicdan, May Christine V.; Mamounas, Laura; Manolio, Teri; Mao, Rong; Markello, Thomas; Marom, Ronit; Marth, Gabor; Martin, Beth; Martin, Martin; Martinez-Agosto, Julian; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen; McCray, Alexa; Metz, Thomas; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John; Murdock, David; Nath, Avi; Nelson, Stan; Newberry, J. Scott; Newman, John; Nicholas, Sarah; Novacic, Donna; Oglesbee, Devin; Orengo, James; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette; Parker, Neil; Phillips, John,; Posey, Jennifer; Postlethwait, John; Potocki, Lorraine; Pusey, Barbara; Quinlan, Aaron; Raja, Archana; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy; Rodan, Lance,; Rosenfeld, Jill,; Rowley, Robb; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda; Samson, Susan; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Kevin; Solnica-Krezel, Lilianna; Spillmann, Rebecca; Stoler, Joan; Stong, Nicholas; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David; Tabor, Holly; Tamburro, Cecelia; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa; Urv, Tiina; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie; Wahl, Colleen; Walley, Nicole; Walsh, Chris; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael; Ward, Patricia; Waters, Katrina; Webb-Robertson, Bobbie-Jo; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew; Wise, Anastasia; Wolfe, Lynne; Woods, Jeremy; Worthey, Elizabeth; Yamamoto, Shinya; Yang, John; Yoon, Amanda; Yu, Guoyun; Zastrow, Diane; Zhao, Chunli; Züchner, Stephan; David, Geneviève; Berry, Gerard T.
In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal.umontpellier.fr/hal-02556784 ; American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩ (2019)
Abstract: International audience ; Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular, cardiac, and genital anomalies. All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly conserved residues, and six of seven cluster within EC domains 4 and 5. Four of the substitutions affect the calcium-binding site in the EC4-EC5 interdomain. We show that cells expressing these variants in the EC4-EC5 domains have a defect in cell-cell adhesion; this defect includes impaired binding in trans with N-cadherin-WT expressed on apposing cells. The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs∗4]; c.2564_2567dupTGTT [p.Leu856Phefs∗5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects).
Keyword: [SDV.BC]Life Sciences [q-bio]/Cellular Biology; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology; [SDV]Life Sciences [q-bio]; ACOG; cardiac defects; CDH2; cell-cell adhesion; corpus callosum; eye defects; genital defects; intellectual disability; N-cadherin
URL: https://doi.org/10.1016/j.ajhg.2019.09.005
https://hal.umontpellier.fr/hal-02556784
BASE
Hide details
11
CRF Autoencoder for Unsupervised Dependency Parsing ...
Cai, Jiong; Jiang, Yong; Tu, Kewei. - : arXiv, 2017
BASE
Show details
12
Dependency Grammar Induction with Neural Lexicalization and Big Training Data ...
Han, Wenjuan; Jiang, Yong; Tu, Kewei. - : arXiv, 2017
BASE
Show details
13
Artificial intelligence in healthcare: past, present and future
Jiang, Fei; Jiang, Yong; Zhi, Hui. - : BMJ Publishing Group, 2017
BASE
Show details
14
Chinese Norms for the Autism Spectrum Rating Scale
Zhou, Hao; Zhang, Lili; Zou, Xiaobing. - : Springer Singapore, 2017
BASE
Show details
15
Additional file 1: of High HIV incidence epidemic among men who have sex with men in china: results from a multi-site cross-sectional study ...
Xu, Jun-Jie; Tang, Wei-Ming; Zou, Hua-Chun. - : Figshare, 2016
BASE
Show details
16
Additional file 1: of High HIV incidence epidemic among men who have sex with men in china: results from a multi-site cross-sectional study ...
Xu, Jun-Jie; Tang, Wei-Ming; Zou, Hua-Chun. - : Figshare, 2016
BASE
Show details
17
A semantic similarity measure based on information distance for ontology alignment
In: Information sciences. - New York, NY : Elsevier Science Inc. 278 (2014), 76-87
OLC Linguistik
Show details
18
An ontology-based approach to Chinese semantic advertising
In: Information sciences. - New York, NY : Elsevier Science Inc. 216 (2012), 138-154
OLC Linguistik
Show details
19
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
Jiang, Yong-Hui; Pan, Yanzhen; Zhu, Li. - : Public Library of Science (PLoS), 2010
BASE
Show details
20
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3
Jiang, Yong-hui; Pan, Yanzhen; Zhu, Li. - : Public Library of Science, 2010
BASE
Show details

Catalogues
0
0
2
0
0
0
0
Bibliographies
0
0
0
0
0
0
0
0
0
Linked Open Data catalogues
0
Online resources
0
0
0
0
Open access documents
18
0
0
0
0
© 2013 - 2024 Lin|gu|is|tik | Imprint | Privacy Policy | Datenschutzeinstellungen ändern