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MITF deficiency accelerates GNAQ-driven uveal melanoma.
Phelps GB, Hagen HR, Amsterdam A, Lees JA. Phelps GB, et al. Proc Natl Acad Sci U S A. 2022 May 10;119(19):e2107006119. doi: 10.1073/pnas.2107006119. Epub 2022 May 5. Proc Natl Acad Sci U S A. 2022. PMID: 35512098 Free PMC article.
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Most diagnosed disorders were identified in the categories of immune dysregulation (n=10/25; 40%), antibody deficiencies (n=5/25; 20%), and phagocyte diseases (n=5/25; 20%). ...
Most diagnosed disorders were identified in the categories of immune dysregulation (n=10/25; 40%), antibody deficiencies (n=5/ …
Social exploitation of vitellogenin.
Amdam GV, Norberg K, Hagen A, Omholt SW. Amdam GV, et al. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1799-802. doi: 10.1073/pnas.0333979100. Epub 2003 Feb 3. Proc Natl Acad Sci U S A. 2003. PMID: 12566563 Free PMC article.
Furin cleavage of the SARS-CoV-2 spike is modulated by O-glycosylation.
Zhang L, Mann M, Syed ZA, Reynolds HM, Tian E, Samara NL, Zeldin DC, Tabak LA, Ten Hagen KG. Zhang L, et al. Proc Natl Acad Sci U S A. 2021 Nov 23;118(47):e2109905118. doi: 10.1073/pnas.2109905118. Proc Natl Acad Sci U S A. 2021. PMID: 34732583 Free PMC article.
Quantitative mapping of the in vivo O-GalNAc glycoproteome in mouse tissues identifies GalNAc-T2 O-glycosites in metabolic disorder.
Yang W, Tian E, Chernish A, McCluggage P, Dalal K, Lara A, Ten Hagen KG, Tabak LA. Yang W, et al. Proc Natl Acad Sci U S A. 2023 Oct 24;120(43):e2303703120. doi: 10.1073/pnas.2303703120. Epub 2023 Oct 20. Proc Natl Acad Sci U S A. 2023. PMID: 37862385 Free PMC article.
The family of GalNAc-Ts (GalNAcpolypeptide:N-Acetylgalactosaminyl transferases) catalyzes the first committed step in the synthesis of O-glycans, which is an abundant and biologically important protein modification. ...
The family of GalNAc-Ts (GalNAcpolypeptide:N-Acetylgalactosaminyl transferases) catalyzes the first committed step in the synthesis o …
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR. Terhal PA, et al. Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604898
The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance-like dysplasia (n = 2). ...
The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5 …
45 results