PubMed (OMIM) for id: 2683

Year	Number of Results
1986	6
1988	1
1991	1
1997	1
1998	1
2000	1
2001	1
2002	2
2009	1
2019	2
2020	2
2021	1
2024	0

1

Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.

Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L; Regeneron Genetics Center Collaboration‡; Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR. Montasser ME, et al. Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2. Science. 2021. PMID: 34855475

2

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A. Staretz-Chacham O, et al. Clin Genet. 2020 Jun;97(6):920-926. doi: 10.1111/cge.13735. Epub 2020 Mar 16. Clin Genet. 2020. PMID: 32157688

3

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.

van den Boogert MAW, Crunelle CL, Ali L, Larsen LE, Kuil SD, Levels JHM, Schimmel AWM, Konstantopoulou V, Guerin M, Kuivenhoven JA, Dallinga-Thie GM, Stroes ESG, Lefeber DJ, Holleboom AG. van den Boogert MAW, et al. J Inherit Metab Dis. 2020 May;43(3):611-617. doi: 10.1002/jimd.12200. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31800099 Free PMC article.

4

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653

5

Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.

Lee PL, Kohler JJ, Pfeffer SR. Lee PL, et al. Glycobiology. 2009 Jun;19(6):655-64. doi: 10.1093/glycob/cwp035. Epub 2009 Mar 3. Glycobiology. 2009. PMID: 19261593 Free PMC article.

6

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy.

Peters V, Penzien JM, Reiter G, Körner C, Hackler R, Assmann B, Fang J, Schaefer JR, Hoffmann GF, Heidemann PH. Peters V, et al. Neuropediatrics. 2002 Feb;33(1):27-32. doi: 10.1055/s-2002-23597. Neuropediatrics. 2002. PMID: 11930273

7

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

Hansske B, Thiel C, Lübke T, Hasilik M, Höning S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Körner C. Hansske B, et al. J Clin Invest. 2002 Mar;109(6):725-33. doi: 10.1172/JCI14010. J Clin Invest. 2002. PMID: 11901181 Free PMC article.

8

Knockout of mouse beta 1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins.

Kotani N, Asano M, Iwakura Y, Takasaki S. Kotani N, et al. Biochem J. 2001 Aug 1;357(Pt 3):827-34. doi: 10.1042/0264-6021:3570827. Biochem J. 2001. PMID: 11463354 Free PMC article.

9

Localization of alpha 1,3-fucosyltransferase VI in Weibel-Palade bodies of human endothelial cells.

Schnyder-Candrian S, Borsig L, Moser R, Berger EG. Schnyder-Candrian S, et al. Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8369-74. doi: 10.1073/pnas.97.15.8369. Proc Natl Acad Sci U S A. 2000. PMID: 10900002 Free PMC article.

10

The expanding beta 4-galactosyltransferase gene family: messages from the databanks.

Lo NW, Shaper JH, Pevsner J, Shaper NL. Lo NW, et al. Glycobiology. 1998 May;8(5):517-26. doi: 10.1093/glycob/8.5.517. Glycobiology. 1998. PMID: 9597550

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