Literature DB >> 30627929

Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes.

Mary T Bausch-Jurken1, Mary Hintermeyer2, Jeffrey Woodliff1, Shaoying Chen3, Amy Rymaszewski1, James Verbsky3, John Routes4,5.   

Abstract

Entities:  

Keywords:  Bruton’s tyrosine kinase; X-linked agammaglobulinemia

Mesh：

Substances：

Year:  2019        PMID： 30627929     DOI： 10.1007/s10875-019-0591-6

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  6 in total

1.  Detection of nonneutral substitution rates on mammalian phylogenies.

Authors:  Katherine S Pollard; Melissa J Hubisz; Kate R Rosenbloom; Adam Siepel
Journal:  Genome Res       Date:  2009-10-26       Impact factor: 9.043

2.  Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia.

Authors:  S R Tzeng; M T Pai; F D Lung; C W Wu; P P Roller; B Lei; C J Wei; S C Tu; S H Chen; W J Soong; J W Cheng
Journal:  Protein Sci       Date:  2000-12       Impact factor: 6.725

Review 3.  BTKbase: the mutation database for X-linked agammaglobulinemia.

Authors:  Jouni Väliaho; C I Edvard Smith; Mauno Vihinen
Journal:  Hum Mutat       Date:  2006-12       Impact factor: 4.878

4.  Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

Authors:  Pamela P W Lee; Tong-Xin Chen; Li-Ping Jiang; Koon-Wing Chan; Wanling Yang; Bee-Wah Lee; Wen-Chin Chiang; Xiang-Yuan Chen; Susanna F S Fok; Tsz-Leung Lee; Marco H K Ho; Xi-Qiang Yang; Yu-Lung Lau
Journal:  J Clin Immunol       Date:  2009-11-11       Impact factor: 8.317

5.  Genome wide analysis of pathogenic SH2 domain mutations.

Authors:  Ilkka Lappalainen; Janita Thusberg; Bairong Shen; Mauno Vihinen
Journal:  Proteins       Date:  2008-08

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  6 in total

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