GDPAG GLS

Ontology Lookup Service (OLS)

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

André B P,van Kuilenburg, Maja,Tarailo-Graovac, Phillip A,Richmond, Britt I,Drögemöller, Mahmoud A,Pouladi, René,Leen, Koroboshka,Brand-Arzamendi, Doreen,Dobritzsch, Egor,Dolzhenko, Michael A,Eberle, Bruce,Hayward, Meaghan J,Jones, Farhad,Karbassi, Michael S,Kobor, Janet,Koster, Daman,Kumari, Meng,Li, Julia,MacIsaac, Cassandra,McDonald, Judith,Meijer, Charlotte,Nguyen, Indhu-Shree,Rajan-Babu, Stephen W,Scherer, Bernice,Sim, Brett,Trost, Laura A,Tseng, Marjolein,Turkenburg, Joke J F A,van Vugt, Jan H,Veldink, Jagdeep S,Walia, Youdong,Wang, Michel,van Weeghel, Galen E B,Wright, Xiaohong,Xu, Ryan K C,Yuen, Jinqiu,Zhang, Colin J,Ross, Wyeth W,Wasserman, Michael T,Geraghty, Saikat,Santra, Ronald J A,Wanders, Xiao-Yan,Wen, Hans R,Waterham, Karen,Usdin, Clara D M,van Karnebeek

The New England journal of medicine · 2019-04-11

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Sarah,Fazal, Matt C,Danzi, André B P,van Kuilenburg, Selina,Reich, Andreas,Traschütz, Benjamin,Bender, René,Leen, Camilo,Toro, Karen,Usdin, Bruce,Hayward, David R,Adams, Clara D M,van Karnebeek, Carlos R,Ferreira, Precilla,D'Sousa, Undiagnosed Diseases,Network, Mustafa,Tekin, Stephan,Züchner, Matthis,Synofzik

Human molecular genetics · 2023-01-01

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.

Lijing,Lei, Linliu,Peng, Linlin,Wan, Zhao,Chen, Chunrong,Wang, Huirong,Peng, Rong,Qiu, Beisha,Tang, Hong,Jiang

Movement disorders : official journal of the Movement Disorder Society · 2024-12-19

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants.

Margaux L A,Hujoel, Robert E,Handsaker, Nolan,Kamitaki, Ronen E,Mukamel, Simone,Rubinacci, Pier F,Palamara, Steven A,McCarroll, Po-Ru,Loh

bioRxiv : the preprint server for biology · 2024-11-26

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

Bruce,Hayward, Daman,Kumari, Saikat,Santra, Clara D M,van Karnebeek, André B P,van Kuilenburg, Karen,Usdin

Scientific reports · 2024-06-14

Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.

Varun,Suroliya, Bharathram,Uppili, Manish,Kumar, Vineet,Jha, Achal K,Srivastava, Mohammed,Faruq

Human genome variation · 2024-06-13

A Phase I Dose-Escalation and Expansion Study of Telaglenastat in Patients with Advanced or Metastatic Solid Tumors.

James J,Harding, Melinda,Telli, Pamela,Munster, Martin H,Voss, Jeffrey R,Infante, Angela,DeMichele, Mark,Dunphy, Mai H,Le, Chris,Molineaux, Keith,Orford, Frank,Parlati, Sam H,Whiting, Mark K,Bennett, Nizar M,Tannir, Funda,Meric-Bernstam

Clinical cancer research : an official journal of the American Association for Cancer Research · 2021-07-20

Controlled underdilation using novel VIATORR® controlled expansion stents improves survival after transjugular intrahepatic portosystemic shunt implantation.

Michael,Praktiknjo, Jasmin,Abu-Omar, Johannes,Chang, Daniel,Thomas, Christian,Jansen, Patrick,Kupczyk, Filippo,Schepis, Juan Carlos,Garcia-Pagan, Manuela,Merli, Carsten,Meyer, Christian P,Strassburg, Claus C,Pieper, Jonel,Trebicka

JHEP reports : innovation in hepatology · 2021-03-03

Dose escalation and expansion (phase Ia/Ib) study of GLS-010, a recombinant fully human antiprogrammed death-1 monoclonal antibody for advanced solid tumors or lymphoma.

Dan,Liu, Chunguang,Ma, Ping,Lu, Jifang,Gong, Dingwei,Ye, Siyang,Wang, Peijian,Peng, Yuxian,Bai, Yuqin,Song, Jianhua,Chen, Ou,Jiang, Guojun,Zhang, Yi,Ba, Li,Chen, Jianji,Pan, Qi,Li, Liling,Zhang, Shanzhi,Gu, Xianli,Yin, Bangwei,Cao, Weiqing,Han, Haiying,Dong, Jianming,Guo, Huilai,Zhang, Hang,Su, Yongsheng,Jiang, Weiwei,Ouyang, Lulin,Ma, Yan,Sun, Feng,Zhang, Jun,Lv, Yabing,Guo, Chongyuan,Xu, Junyuan,Qi, Li,Wang, Xiang,Wang, Zhen,Liu, Lin,Shen

European journal of cancer (Oxford, England : 1990) · 2021-03-07

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.

Satomi,Mitsuhashi, Martin C,Frith, Naomichi,Matsumoto

BMC medical genomics · 2021-01-07

Pure red cell aplasia associated with expansion of CD3+ CD8+ granular lymphocytes expressing cytotoxicity against HLA-E+ cells.

Kiyoshi L,Mori, Hisae,Furukawa, Keiko,Hayashi, Kei-Ji J,Sugimoto, Kazuo,Oshimi

British journal of haematology · 2003-10-01