PMC Links for Books (Select 5428058) - PMC

Select item 98862771.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

eLife. 2023; 12: e81032. Published online 2023 Jan 17. doi: 10.7554/eLife.81032

PMCID:: PMC9886277

Abstract Article PDF–3.5M

Select item 81679712.

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen

BMC Pediatr. 2021; 21: 256. Published online 2021 Jun 1. doi: 10.1186/s12887-021-02719-8

PMCID:: PMC8167971

Abstract Article PDF–1.4M

Select item 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 72558014.

Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms

Siyuan Zhao, Yevgen Yudin, Tibor Rohacs

eLife. 2020; 9: e55634. Published online 2020 Apr 28. doi: 10.7554/eLife.55634

PMCID:: PMC7255801

Abstract Article PDF–1.2M

Select item 72531775.

Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

Evelien Van Hoeymissen, Katharina Held, Ana Cristina Nogueira Freitas, Annelies Janssens, Thomas Voets, Joris Vriens

eLife. 2020; 9: e57190. Published online 2020 May 19. doi: 10.7554/eLife.57190

PMCID:: PMC7253177

Abstract Article PDF–1.2M

Select item 67774456.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

Eur J Hum Genet. 2019 Oct; 27(10): 1611–1618. Published online 2019 Jul 5. doi: 10.1038/s41431-019-0462-x

PMCID:: PMC6777445

Abstract Article PDF–1.4M

Select item 47319257.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 41212319.

Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma

Thomas M. Bennett, Donna S. Mackay, Carla J. Siegfried, Alan Shiels

PLoS One. 2014; 9(8): e104000. Published online 2014 Aug 4. doi: 10.1371/journal.pone.0104000

PMCID:: PMC4121231

Abstract Article PDF–2.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity