Connection

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
  1. 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.
    View in: PubMed
    Score: 0.091
  2. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan; 74(1):93-105.
    View in: PubMed
    Score: 0.041
  3. The dual specificity JKAP specifically activates the c-Jun N-terminal kinase pathway. J Biol Chem. 2002 Sep 27; 277(39):36592-601.
    View in: PubMed
    Score: 0.037
  4. Cell cycle-dependent expression and nucleolar localization of hCAP-H. Mol Biol Cell. 2001 Nov; 12(11):3527-37.
    View in: PubMed
    Score: 0.035
  5. Gene trap screening using negative selection: identification of two tandem, differentially expressed loci with potential hematopoietic function. Dev Genet. 1999; 25(1):49-63.
    View in: PubMed
    Score: 0.029
  6. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
    View in: PubMed
    Score: 0.025
  7. 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.
    View in: PubMed
    Score: 0.024
  8. Inhibition of HIV-1 by a double transdominant fusion gene. Gene Ther. 1995 May; 2(3):181-6.
    View in: PubMed
    Score: 0.022
  9. Insights into lymphocyte development from X-linked immune deficiencies. Trends Genet. 1995 Mar; 11(3):112-6.
    View in: PubMed
    Score: 0.022
  10. 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.
    View in: PubMed
    Score: 0.022
  11. 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.
    View in: PubMed
    Score: 0.021
  12. The biology of the human ligand for CD40. J Clin Immunol. 1993 Nov; 13(6):373-80.
    View in: PubMed
    Score: 0.020
  13. NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012 Jun 08; 110(12):1564-74.
    View in: PubMed
    Score: 0.018
  14. 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.
    View in: PubMed
    Score: 0.015
  15. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 01; 18(5):861-71.
    View in: PubMed
    Score: 0.014
  16. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet. 2008 Sep 15; 17(18):2886-93.
    View in: PubMed
    Score: 0.014
  17. 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.
    View in: PubMed
    Score: 0.014
  18. 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.
    View in: PubMed
    Score: 0.013
  19. 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.
    View in: PubMed
    Score: 0.010
  20. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet. 2001 Nov; 109(5):512-20.
    View in: PubMed
    Score: 0.009
  21. 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.
    View in: PubMed
    Score: 0.007
  22. 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.
    View in: PubMed
    Score: 0.007
  23. 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.
    View in: PubMed
    Score: 0.006
  24. The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics. 1994; 40(5):319-24.
    View in: PubMed
    Score: 0.005
  25. Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar; 12(3):596-600.
    View in: PubMed
    Score: 0.004
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.