JOHN BELMONT to Amino Acid Sequence
This is a "connection" page, showing publications JOHN BELMONT has written about Amino Acid Sequence.
Connection Strength
0.524
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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. Am J Med Genet A. 2015 Nov; 167A(11):2742-7.
Score: 0.091
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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan; 74(1):93-105.
Score: 0.041
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The dual specificity JKAP specifically activates the c-Jun N-terminal kinase pathway. J Biol Chem. 2002 Sep 27; 277(39):36592-601.
Score: 0.037
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Cell cycle-dependent expression and nucleolar localization of hCAP-H. Mol Biol Cell. 2001 Nov; 12(11):3527-37.
Score: 0.035
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Gene trap screening using negative selection: identification of two tandem, differentially expressed loci with potential hematopoietic function. Dev Genet. 1999; 25(1):49-63.
Score: 0.029
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.025
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.024
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Inhibition of HIV-1 by a double transdominant fusion gene. Gene Ther. 1995 May; 2(3):181-6.
Score: 0.022
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Insights into lymphocyte development from X-linked immune deficiencies. Trends Genet. 1995 Mar; 11(3):112-6.
Score: 0.022
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The receptor tyrosine kinase-related gene (ryk) demonstrates lineage and stage-specific expression in hematopoietic cells. J Immunol. 1995 Feb 01; 154(3):1157-66.
Score: 0.022
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A sensitive reporter cell line for HIV-1 tat activity, HIV-1 inhibitors, and T cell activation effects. AIDS Res Hum Retroviruses. 1994 Mar; 10(3):295-301.
Score: 0.021
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The biology of the human ligand for CD40. J Clin Immunol. 1993 Nov; 13(6):373-80.
Score: 0.020
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NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012 Jun 08; 110(12):1564-74.
Score: 0.018
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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):225-34.
Score: 0.015
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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 01; 18(5):861-71.
Score: 0.014
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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet. 2008 Sep 15; 17(18):2886-93.
Score: 0.014
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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet. 2008 Jul; 83(1):18-29.
Score: 0.014
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Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov; 81(5):987-94.
Score: 0.013
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402.
Score: 0.010
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Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet. 2001 Nov; 109(5):512-20.
Score: 0.009
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Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet. 1999 Mar; 64(3):712-21.
Score: 0.007
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Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998 Jan; 8(1):29-40.
Score: 0.007
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Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995 May; 6(5):334-8.
Score: 0.006
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The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics. 1994; 40(5):319-24.
Score: 0.005
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Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar; 12(3):596-600.
Score: 0.004