ELIZA cgi-bash version rev. 1.90
- Medical English LInking keywords finder for the PubMed Zipped Archive (ELIZA) -

return kwic search for gene out of >500 occurrences
403337 occurrences (No.43 in the rank) during 5 years in the PubMed. [no cache] 500 found
317) Gene alterations in known BBS (22) and other ciliopathy genes such as ALMS1 (2) were seen in 24 of 30 families (80%).
--- ABSTRACT ---
PMID:24400638 DOI:10.1111/cge.12342
2015 Clinical genetics
* Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
- Bardet-Biedl syndrome (BBS), a ciliopathy disorder with pleiotropic effect manifests primarily as retinal degeneration along with renal insufficiency, polydactyly and obesity. In this study, we have performed homozygosity mapping using NspI 250K affymetrix gene chip followed by mutation screening of the candidate genes located in the homozygous blocks. These regions are prioritized based on the block length and candidature of the genes in BBS and other ciliopathies. Gene alterations in known BBS (22) and other ciliopathy genes such as ALMS1 (2) were seen in 24 of 30 families (80%). Mutations in BBS3 gene, inclusive of a novel recurrent mutation (p.I91T) accounted for 18% of the identified variations. Disease associated polymorphisms p.S70N (BBS2), rs1545 and rs1547 (BBS6) were also observed. This is the first study in Indian BBS patients and homozygosity mapping has proved to be an effective tool in prioritizing the candidate genes in consanguineous pedigrees. The study reveals a different mutation profile in the ciliopathy genes in Indian population and implication of novel loci/genes in 20% of the study group.
--- ABSTRACT END ---
[
right
kwic]
[frequency of next (right) word to gene]
(1)75 expression (15)5 of (29)3 block (43)2 mutation
(2)34 order (16)5 transfer (30)3 can (44)2 on
(3)32 arrangement (17)5 were (31)3 contents (45)2 overlap
(4)31 and (18)4 activation (32)3 polymorphisms (46)2 peptide
(5)21 *null* (19)4 delivery (33)3 sequencing (47)2 profiling
(6)15 was (20)4 encoding (34)3 transcription (48)2 regions
(7)12 expression, (21)4 expressions (35)2 analysis (49)2 sequence
(8)9 arrangement, (22)4 fragments (36)2 carriers (50)2 sequences,
(9)7 composition (23)4 is (37)2 cluster (51)2 spookier
(10)7 organization (24)4 silencing (38)2 clusters (52)2 synteny
(11)7 sequences (25)4 to (39)2 content (53)2 therapy,
(12)5 flow (26)4 which (40)2 family (54)2 used
(13)5 for (27)3 alterations (41)2 from (55)2 uses
(14)5 in (28)3 as (42)2 has

add keyword

--- WordNet output for gene --- =>遺伝子 Overview of noun gene The noun gene has 1 sense (no senses from tagged texts) 1. gene, cistron, factor -- ((genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors") --- WordNet end ---