ELIZA

return kwic search for expression out of >500 occurrences
731925 occurrences (No.6 in the rank) during 5 years in the PubMed. [no cache] 500 found

329) This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression.

--- ABSTRACT ---

PMID:23010537 DOI:10.1016/j.jmii.2012.07.004

2015 Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi

* X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

- Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case.

--- ABSTRACT END ---

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[frequency of next (right) word to expression]

(1)183 of	(11)7 is	(21)3 indicating	(31)2 level,
(2)50 in	(12)6 analysis	(22)3 on	(32)2 pattern
(3)28 levels	(13)4 at	(23)3 via	(33)2 profiling
(4)25 and	(14)4 profile	(24)2 alkaline	(34)2 regulation
(5)23 was	(15)4 through	(25)2 between	(35)2 that
(6)21 null	(16)4 were	(26)2 but	(36)2 whereas
(7)11 level	(17)3 are	(27)2 cell	(37)2 which
(8)10 patterns	(18)3 changes	(28)2 during	(38)2 with
(9)8 profiles	(19)3 data	(29)2 from
(10)7 by	(20)3 for	(30)2 increased

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--- WordNet output for expression --- =>表現すること, 式, 表現, 表示, 言い回し, 表現法, 表情 Overview of noun expression The noun expression has 9 senses (first 6 from tagged texts) 1. (23) expression, look, aspect, facial expression, face -- (the feelings expressed on a person's face; "a sad expression"; "a look of triumph"; "an angry face") 2. (18) expression, manifestation, reflection, reflexion -- (expression without words; "tears are an expression of grief"; "the pulse is a reflection of the heart's condition") 3. (15) expression, verbal expression, verbalism -- (the communication (in speech or writing) of your beliefs or opinions; "expressions of good will"; "he helped me find verbal expression for my ideas"; "the idea was immediate but the verbalism took hours") 4. (5) saying, expression, locution -- (a word or phrase that particular people use in particular situations; "pardon the expression") 5. (4) formulation, expression -- (the style of expressing yourself; "he suggested a better formulation"; "his manner of expression showed how much he cared") 6. (4) formula, expression -- (a group of symbols that make a mathematical statement) 7. expression -- ((genetics) the process of expressing a gene) 8. construction, grammatical construction, expression -- (a group of words that form a constituent of a sentence and are considered as a single unit; "I concluded from his awkward constructions that he was a foreigner") 9. expression -- (the act of forcing something out by squeezing or pressing; "the expression of milk from her breast") --- WordNet end ---