Search Results - "Simpson MA"

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Authors: Fotiou E Martin-Almedina S Simpson MA et al.

Source: Nature communications [Nat Commun] 2019 Apr 26; Vol. 10 (1), pp. 1951. Date of Electronic Publication: 2019 Apr 26.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE

Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1‐Associated Hereditary Spastic Paraplegia.

Authors: Giacomozzi, Sebastiano Bonan, Luigi La Morgia, Chiara et al.

Source: Movement Disorders Clinical Practice. Sep2025, Vol. 12 Issue 9, p1425-1428. 4p.

C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption.

Authors: Harwood H Zimmer BM Utz AR et al.

Source: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2026 Jun; Vol. 146, pp. 102011. Date of Electronic Publication: 2026 Apr 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE

Unravelling the causal link between gut microbiota and acne risk using a genetic approach.

Authors: Cao F Ogonowski NS Díaz-Torres S et al.

Source: Skin health and disease [Skin Health Dis] 2025 Nov 05; Vol. 5 (6), pp. 448-459. Date of Electronic Publication: 2025 Nov 05 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9918227353706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2690-442X (Electronic) Linking ISSN: 2690442X NLM ISO Abbreviation: Skin Health Dis Subsets: PubMed not MEDLINE

Genetic liability to psoriasis predicts severe disease outcomes.

Authors: Saklatvala JR Lessard S Teder-Laving M et al.

Corporate Authors: Saklatvala JR Lessard S Teder-Laving M et al.

Source: Genome medicine [Genome Med] 2025 Dec 17; Vol. 18 (1), pp. 14. Date of Electronic Publication: 2025 Dec 17.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

ASPPs multimerize protein phosphatase 1.

Authors: Wei, Derek T. Morrison, Kayleigh N. Beacham, Gwendolyn M. et al.

Source: PLoS Genetics. 10/16/2025, Vol. 21 Issue 10, p1-21. 21p.

Multicytokine-based transcriptome-wide association study for 7 inflammatory skin disorders identifies candidate causal genes in keratinocytes.

Authors: Zhang H Patrick MT Sarkar MK et al.

Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 May 26. Date of Electronic Publication: 2026 May 26.

Publication Type: Journal Article

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

Authors: Kim HI DeBoever C Walter K et al.

Corporate Authors: Kim HI DeBoever C Walter K et al.

Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 821-830. Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris.

Authors: Mitchell BL Lupton MK Rentería ME et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 565-573. Date of Electronic Publication: 2026 Feb 04.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

CADASIL type 1 with cysteine-sparing P572L mutation on exon 11 presenting as focal onset epilepsy: a case report.

Authors: Geng, Yumei Li, Huimin Guo, Zhenli et al.

Source: Egyptian Journal of Medical Human Genetics. 6/15/2026, Vol. 27 Issue 1, p1-7. 7p.

A Concurrent Validity Study of the Mullen Scales of Early Learning (MSEL) and the MacArthur-Bates Communicative Developmental Inventory (CDI) in Infants with an Elevated Likelihood or Diagnosis of Autism.

Authors: Belteki, Z. Ward, E. K. Begum-Ali, J. et al.

Source: Journal of Autism & Developmental Disorders. Jun2026, Vol. 56 Issue 6, p2323-2338. 16p.

Subjects: Statistical correlation, Research funding, Data analysis, Autism, Research methodology evaluation, Research evaluation, Fisher exact test, Learning, Descriptive statistics, Mann Whitney U Test, Home environment, Longitudinal method, Caregivers, Research methodology, Research, Speech evaluation, Statistics, Asperger's syndrome, Vocabulary, Comparative studies, Data analysis software, Language acquisition, Children

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.

Authors: Wootton O Campbell P Richardson S et al.

Source: Genome medicine [Genome Med] 2025 Oct 30; Vol. 17 (1), pp. 134. Date of Electronic Publication: 2025 Oct 30.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Endovascular treatment for acute ischemic stroke in patients with versus without atrial fibrillation: a matched-control study.

Authors: Tong, Xu Li, Shijing Liu, Wei et al.

Source: BMC Neurology. 9/29/2021, Vol. 21 Issue 1, p1-8. 8p.

The role of lipid metabolism in acne risk: integrating blood metabolite and genetic insights.

Authors: Liu M Diaz-Torres S Mitchell BL et al.

Source: Skin health and disease [Skin Health Dis] 2025 Feb 24; Vol. 5 (2), pp. 124-129. Date of Electronic Publication: 2025 Feb 24 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9918227353706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2690-442X (Electronic) Linking ISSN: 2690442X NLM ISO Abbreviation: Skin Health Dis Subsets: PubMed not MEDLINE

Phosphorylation of UDP-glucose dehydrogenase increases glycosaminoglycan biosynthesis and promotes tumor cell motility, spheroid growth, and therapeutic resistance.

Authors: Utz AR Ma L Hilovsky D et al.

Source: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2025 Dec; Vol. 142, pp. 33-45. Date of Electronic Publication: 2025 Oct 17.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE

국내 생체 간이식 공여자의 수술 후 적응에 관한 통합적 고찰.

Alternate Title: Adaptation of living donors after liver transplantation in South Korea: an integrative review.

Authors: 안경주¹ antheresa@cju.ac.kr

Source: Journal of Korean Biological Nursing Science. May2026, Vol. 28 Issue 2, p231-248. 18p.

A Study on the Potential of Curcumin in Proliferation and Apoptosis of SW480 and SW620 Colon Cancer Cell Lines.

Authors: Dey, Amit Jain, Samatha M. Nambidi, Sibin et al.

Source: Regenerative Engineering & Translational Medicine. Mar2026, Vol. 12 Issue 1, p296-314. 19p.

Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation.

Authors: Desai, Soaham Shah, Arth Neelamegam, Shruthi et al.

Source: Annals of Indian Academy of Neurology. Mar/Apr2026, Vol. 29 Issue 2, p257-260. 4p.

GATA2 participates in protection against hypoxia-induced pulmonary vascular remodeling.

Authors: Shirota, Yuko Ohmori, Shin'ya Engel, James Douglas et al.

Source: PLoS ONE. 12/31/2024, Vol. 19 Issue 12, p1-19. 19p.

Advocating for a "shift-to-left" in transplant oncology: left grafts, RAPID and dual graft.

Authors: Cillo U Furlanetto A Gringeri E et al.

Source: Updates in surgery [Updates Surg] 2025 Oct; Vol. 77 (6), pp. 1889-1902. Date of Electronic Publication: 2024 Aug 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 101539818 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2038-3312 (Electronic) Linking ISSN: 2038131X NLM ISO Abbreviation: Updates Surg Subsets: MEDLINE