SCOPUS 정보 검색 플랫폼

Volumn 32, Issue 1, 2017, Pages 151-156

Contribution of the TTC21B gene to glomerular and cystic kidney diseases

(11) Bullich, Gemma a Vargas, Ivan b Trujillano, Daniel c,d,e,f Mendizabal, Santiago g Pinero Fernandez, Juan Alberto h Fraga, Gloria i Garcia Solano, Jose j Ballarin, Jose a Estivill, Xavier c,d,e,f Torra, Roser a Ars, Elisabet a

a UNIVERSITAT AUTÒNOMA DE BARCELONA (Spain)

b IDI Institut de Diagnòstic per la Imatge (Spain)

c CENTRE FOR GENOMIC REGULATION CRG (Spain)

d UNIVERSITAT POMPEU FABRA (Spain)

e INST MUNIC D INVESTIGACIO MEDICA (Spain)

f CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP (Spain)

g HOSPITAL UNIVERSITARIO LA FE (Spain)

h HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA (Spain)

i HOSPITAL DE LA SANTA CREU I SANT PAU (Spain)

more..

Author keywords

FSGS; Modifier; Mutation; TTC21B; Tubulointerstitial

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLOMERULONEPHRITIS; HUMAN; HYPERTENSION; INHERITANCE; INTERSTITIAL NEPHRITIS; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MALE; MYOPIA; NEPHRONOPHTHISIS; NEPHROTIC SYNDROME; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; TTC21B GENE; CASE CONTROL STUDY; DISEASE COURSE; DNA MUTATIONAL ANALYSIS; GENETICS; HETEROZYGOTE; MUTATION; PATHOLOGY; PEDIGREE;

IFT139 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HETEROZYGOTE; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PEDIGREE;

EID: 85016219513 PISSN: 09310509 EISSN: 14602385 Source Type: Journal
DOI: 10.1093/ndt/gfv453 Document Type: Article

Times cited : (31)

References (12)

1
- 84911174078
- A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS
- Huynh Cong E, Bizet AA, Boyer O et al. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. J Am Soc Nephrol 2014; 25: 2435-2443
- (2014) J Am Soc Nephrol , vol.25 , pp. 2435-2443
- Huynh Cong, E.¹ Bizet, A.A.² Boyer, O.³

2
- 79952192021
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- Davis EE, Zhang Q, Liu Q et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011; 43: 189-196
- (2011) Nat Genet , vol.43 , pp. 189-196
- Davis, E.E.¹ Zhang, Q.² Liu, Q.³

3
- 41349107244
- THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
- Tran PV, Haycraft CJ, Besschetnova TY et al. THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nat Genet 2008; 40: 403-410
- (2008) Nat Genet , vol.40 , pp. 403-410
- Tran, P.V.¹ Haycraft, C.J.² Besschetnova, T.Y.³

4
- 84946495375
- Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
- McInerney-Leo AM, Harris JE, Leo PJ et al. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clin Genet 2015; 88: 550-557
- (2015) Clin Genet , vol.88 , pp. 550-557
- McInerney-Leo, A.M.¹ Harris, J.E.² Leo, P.J.³

5
- 79551634466
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
- Otto EA, Ramaswami G, Janssen S et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. JMed Genet 2011; 48: 105-116
- (2011) JMed Genet , vol.48 , pp. 105-116
- Otto, E.A.¹ Ramaswami, G.² Janssen, S.³

6
- 84939267798
- Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: Mutations in multiple glomerular genesmay influence disease severity
- Bullich G, Trujillano D, Santin S et al. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genesmay influence disease severity. Eur J Hum Genet 2015; 23: 1192-1199
- (2015) Eur J Hum Genet , vol.23 , pp. 1192-1199
- Bullich, G.¹ Trujillano, D.² Santin, S.³

7
- 84979856217
- Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted nextgeneration sequencing
- Trujillano D, Bullich G, Ossowski S et al. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted nextgeneration sequencing.Mol Genet GenomicMed 2014; 2: 412-421
- (2014) Mol Genet GenomicMed , vol.2 , pp. 412-421
- Trujillano, D.¹ Bullich, G.² Ossowski, S.³

8
- 84883194528
- Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex highcoverage resequencing of CFTR
- Trujillano D, Ramos MD, Gonzalez J et al. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex highcoverage resequencing of CFTR. JMed Genet 2013; 50: 455-462
- (2013) JMed Genet , vol.50 , pp. 455-462
- Trujillano, D.¹ Ramos, M.D.² Gonzalez, J.³

9
- 84975795680
- An integrated map of genetic variation from 1,092 human genomes
- Abecasis GR, Auton A, Brooks LD et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65
- (2012) Nature , vol.491 , pp. 56-65
- Abecasis, G.R.¹ Auton, A.² Brooks, L.D.³

10
- 80555136788
- Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
- Bergmann C, von BJ, Ortiz BN et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 2011; 22: 2047-2056
- (2011) J Am Soc Nephrol , vol.22 , pp. 2047-2056
- Bergmann, C.¹ Von, B.J.² Ortiz, B.N.³

11
- 84878695560
- Type of PKD1 mutation influences renal outcome in ADPKD
- Cornec-Le Gall E, Audrezet M-P, Chen J-M et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol 2013; 24: 1006-1013
- (2013) J Am Soc Nephrol , vol.24 , pp. 1006-1013
- Cornec-Le Gall, E.¹ Audrezet, M.-P.² Chen, J.-M.³

12
- 84907598667
- Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
- Fallerini C, Dosa L, Tita R et al. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet 2014; 86: 252-257
- (2014) Clin Genet , vol.86 , pp. 252-257
- Fallerini, C.¹ Dosa, L.² Tita, R.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.