Search Results - "Triggs-Raine, B."

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Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.

Authors: Schroeder, M. L. Triggs-Raine, B. Zelinski, T.

Source: BMC Medical Genetics. 7/22/2016, Vol. 17, p1-4. 4p.

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Prenatal exclusion of Tay-Sachs disease by DNA analysis.

Authors: Triggs-Raine, B L Archibald, A Gravel, R A et al.

Source: Lancet. 5/12/1990, Vol. 335 Issue 8698, p1164-1164. 1p.

Subjects: DNA analysis, Genetic techniques, Genetic mutation, Polymerase chain reaction, Prenatal diagnosis, Tay-Sachs disease, Evaluation research

Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene

Authors: Zelinski, T. Coghlan, G. Mauthe, J. et al.

Source: Molecular Genetics & Metabolism. Feb2007, Vol. 90 Issue 2, p210-216. 7p.

6 Generation and characterization of a hyaluronidase 3 deficient mouse model

Authors: Atmuri, Vasantha Martin, D. Byers, S. et al.

Source: Molecular Genetics & Metabolism. Dec2007, Vol. 92 Issue 4, p12-12. 1p.

The mitophagy receptor BNIP3L/Nix coordinates nuclear calcium signaling to modulate the muscle phenotype.

Authors: Field JT Chapman D Hai Y et al.

Source: Autophagy [Autophagy] 2025 Jul; Vol. 21 (7), pp. 1544-1555. Date of Electronic Publication: 2025 Mar 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8635 (Electronic) Linking ISSN: 15548627 NLM ISO Abbreviation: Autophagy Subsets: MEDLINE

A Novel Anks6 Nonsense Variant Promotes Polycystic Kidney Disease in Han:SPRD-Cy Rats and its Homozygosity is Prenatally Lethal.

Authors: Pemberton TJ Winter T Hemming R et al.

Source: Kidney360 [Kidney360] 2026 Mar 11. Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 101766381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2641-7650 (Electronic) Linking ISSN: 26417650 NLM ISO Abbreviation: Kidney360 Subsets: MEDLINE

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Authors: Barker EN Ashiri M Saville JT et al.

Source: Biology open [Biol Open] 2025 Sep 15; Vol. 14 (9). Date of Electronic Publication: 2025 Sep 30.

Publication Type: Journal Article

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101578018 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2046-6390 (Electronic) Linking ISSN: 20466390 NLM ISO Abbreviation: Biol Open Subsets: MEDLINE

Generation of prolactin-inducible protein (Pip) knockout mice by CRISPR/Cas9-mediated gene engineering.

Authors: Terceiro LEL Blanchard AAA Edechi CA et al.

Source: Canadian journal of physiology and pharmacology [Can J Physiol Pharmacol] 2022 Jan; Vol. 100 (1), pp. 86-91. Date of Electronic Publication: 2021 Aug 11.

Publication Type: Journal Article

Journal Info: Publisher: Canadian Science Publishing Country of Publication: Canada NLM ID: 0372712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1205-7541 (Electronic) Linking ISSN: 00084212 NLM ISO Abbreviation: Can J Physiol Pharmacol Subsets: MEDLINE

Genetic Deficiencies of Hyaluronan Degradation.

Authors: Fink SP Triggs-Raine B

Source: Cells [Cells] 2024 Jul 16; Vol. 13 (14). Date of Electronic Publication: 2024 Jul 16.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.

Authors: Maharaj AV Cottrell E Thanasupawat T et al.

Source: JCI insight [JCI Insight] 2024 Feb 20; Vol. 9 (6). Date of Electronic Publication: 2024 Feb 20.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Bitter taste receptor T2R14 detects quorum sensing molecules from cariogenic Streptococcus mutans and mediates innate immune responses in gingival epithelial cells.

Authors: Medapati MR Singh N Bhagirath AY et al.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2021 Mar; Vol. 35 (3), pp. e21375.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

SPAM1/HYAL5 double deficiency in male mice leads to severe male subfertility caused by a cumulus-oocyte complex penetration defect.

Authors: Park S Kim YH Jeong PS et al.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2019 Dec; Vol. 33 (12), pp. 14440-14449. Date of Electronic Publication: 2019 Oct 31.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Authors: Fasham J Lin S Ghosh P et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 631-644. Date of Electronic Publication: 2021 Nov 30.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses.

Authors: Benzie G Bouma K Battellino T et al.

Source: BBA advances [BBA Adv] 2021 Dec 13; Vol. 2, pp. 100032. Date of Electronic Publication: 2021 Dec 13 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 9918227371406676 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-1603 (Electronic) Linking ISSN: 26671603 NLM ISO Abbreviation: BBA Adv Subsets: PubMed not MEDLINE

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

Authors: Muggenthaler MM Chowdhury B Hasan SN et al.

Source: PLoS genetics [PLoS Genet] 2017 Jan 12; Vol. 13 (1), pp. e1006470. Date of Electronic Publication: 2017 Jan 12 (Print Publication: 2017).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Hyaluronidase 2 (HYAL2) is expressed in endothelial cells, as well as some specialized epithelial cells, and is required for normal hyaluronan catabolism.

Authors: Chowdhury B Hemming R Faiyaz S et al.

Source: Histochemistry and cell biology [Histochem Cell Biol] 2016 Jan; Vol. 145 (1), pp. 53-66. Date of Electronic Publication: 2015 Oct 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 9506663 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-119X (Electronic) Linking ISSN: 09486143 NLM ISO Abbreviation: Histochem Cell Biol Subsets: MEDLINE

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates.

Authors: Walia JS Altaleb N Bello A et al.

Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2015 Mar; Vol. 23 (3), pp. 414-22. Date of Electronic Publication: 2014 Dec 17.

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE