Search Results - "Sutton VR"

Pharmacological inhibition of perforin dampens CD8⁺ T cell-mediated beta cell destruction in autoimmune diabetes in mice.

Authors: Trivedi PM Catterall T Sutton VR et al.

Source: Diabetologia [Diabetologia] 2026 Jun 11. Date of Electronic Publication: 2026 Jun 11.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0428 (Electronic) Linking ISSN: 0012186X NLM ISO Abbreviation: Diabetologia Subsets: MEDLINE

Clinical, biological and cytometric characteristics of two patients with a homozygous A91VPRF1 mutation.

Authors: Perrard, Nicolas Poggi, Claire Sanges, Sébastien et al.

Source: Clinical & Translational Immunology. Mar2026, Vol. 15 Issue 3, p1-9. 9p.

Co-Creating an Intervention to Prevent Injuries in Police Force Recruits: A Concept Mapping Study of Police Force Recruits, Police Force Staff, Health Professionals, and Research Experts.

Authors: Murphy, Myles Mosler, Andrea B. Allen, Garth et al.

Source: Sports Medicine - Open. 6/28/2026, Vol. 12 Issue 1, p1-21.

Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening.

Authors: Lang SH Shanghvi D Divin K et al.

Source: Child abuse & neglect [Child Abuse Negl] 2026 Jul 07; Vol. 179, pp. 108212. Date of Electronic Publication: 2026 Jul 07.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Inc Country of Publication: England NLM ID: 7801702 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7757 (Electronic) Linking ISSN: 01452134 NLM ISO Abbreviation: Child Abuse Negl Subsets: MEDLINE

Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.

Authors: Irving M Greco E Cocca A et al.

Source: Advances in therapy [Adv Ther] 2026 May; Vol. 43 (5), pp. 2018-2033. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Authors: Pan X Wang Y Liu N et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109260. Date of Electronic Publication: 2025 Oct 08.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Pharmacologic inhibition of dipeptidyl peptidase 1 (cathepsin C) does not block in vitro granzyme-mediated target cell killing by CD8 T or NK cells.

Authors: Sutton VR Watt SV Akhlaghi H et al.

Source: Frontiers in pharmacology [Front Pharmacol] 2024 Jul 03; Vol. 15, pp. 1396710. Date of Electronic Publication: 2024 Jul 03 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Authors: Glinton KE Gijavanekar C Rajagopal A et al.

Source: Frontiers in genetics [Front Genet] 2024 Jun 19; Vol. 15, pp. 1405468. Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Metabolic masqueraders of paediatric and adult rheumatic diseases.

Authors: Lang SH Sha C Rose CM et al.

Source: Nature reviews. Rheumatology [Nat Rev Rheumatol] 2026 Apr; Vol. 22 (4), pp. 239-255. Date of Electronic Publication: 2026 Feb 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101500080 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-4804 (Electronic) Linking ISSN: 17594790 NLM ISO Abbreviation: Nat Rev Rheumatol Subsets: MEDLINE

Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma.

Authors: Şiraz, Ülkü Gül Göl, Deniz Koçak Rohlfs, Meino et al.

Source: Journal of Clinical Research in Pediatric Endocrinology. 2026 Suppl, Vol. 18, p75-82. 8p.

A TAK1 cytokine toxicity checkpoint controls anti-cancer immunity.

Authors: Djajawi TM Huber A Rivera SM et al.

Source: Cell reports [Cell Rep] 2026 Jan 27; Vol. 45 (1), pp. 116665. Date of Electronic Publication: 2025 Dec 19.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Two commonly reported incidental variants in OTC are associated with late-onset disease.

Authors: Lang SH Lo RS Cromie GA et al.

Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100531. Date of Electronic Publication: 2025 Oct 16.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.

Authors: Dalgleish, Raymond Micha, Dimitra Superti-Furga, Andrea et al.

Source: Orphanet Journal of Rare Diseases. 7/19/2024, Vol. 19 Issue 1, p1-3. 3p.

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Authors: Ding, Si Deng, Yuxin Ding, Yi et al.

Source: Orphanet Journal of Rare Diseases. 8/21/2025, Vol. 20 Issue 1, p1-8. 8p.

Aicardi syndrome: Clinical spectrum of a rare disorder.

Authors: Jakhar, Sunisha Yadav, Dinkar Bhalla, Kapil et al.

Source: Journal of Family Medicine & Primary Care. Mar2025, Vol. 14 Issue 3, p1145-1146. 2p.

Global insights into keloid formation: An international systematic review of regional genetic risk factors and commonalities.

Authors: James, Andrew J. Torres‐Guzman, Ricardo A. Chaker, Sara C. et al.

Source: Wound Repair & Regeneration. Sep2024, Vol. 32 Issue 5, p746-757. 12p.

The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Authors: Miller MJ Duque Lasio ML Kennedy AD et al.

Corporate Authors: Miller MJ Duque Lasio ML Kennedy AD et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101493. Date of Electronic Publication: 2025 Jul 18.

Publication Type: Journal Article; Practice Guideline

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; In Process

Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.

Authors: Snyder MT Divin K Liu N et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Aug; Vol. 145 (4), pp. 109183. Date of Electronic Publication: 2025 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

People with hip osteoarthritis have reduced quadriceps voluntary activation and altered motor cortex function.

Authors: Murphy, Myles C. Coventry, Molly Taylor, Janet L. et al.

Source: Sports Medicine & Health Science (SMHS). Nov2025, Vol. 7 Issue 6, p438-445.

Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family.

Authors: Hanif, M Ahmad, B Farman, S et al.

Source: Balkan Journal of Medical Genetics. Dec2025, Vol. 28 Issue 2, p29-40. 12p.