291 related articles for article (PubMed ID: 32553112)
1. LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome.
Bozal-Basterra L; Gonzalez-Santamarta M; Muratore V; Bermejo-Arteagabeitia A; Da Fonseca C; Barroso-Gomila O; Azkargorta M; Iloro I; Pampliega O; Andrade R; Martín-Martín N; Branon TC; Ting AY; Rodríguez JA; Carracedo A; Elortza F; Sutherland JD; Barrio R
Elife; 2020 Jun; 9():. PubMed ID: 32553112
[TBL] [Abstract][Full Text] [Related]
2. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
Bozal-Basterra L; Martín-Ruíz I; Pirone L; Liang Y; Sigurðsson JO; Gonzalez-Santamarta M; Giordano I; Gabicagogeascoa E; de Luca A; Rodríguez JA; Wilkie AOM; Kohlhase J; Eastwood D; Yale C; Olsen JV; Rauchman M; Anderson KV; Sutherland JD; Barrio R
Am J Hum Genet; 2018 Feb; 102(2):249-265. PubMed ID: 29395072
[TBL] [Abstract][Full Text] [Related]
3. A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.
Hirsch S; El-Achkar T; Robbins L; Basta J; Heitmeier M; Nishinakamura R; Rauchman M
Am J Physiol Renal Physiol; 2015 Nov; 309(10):F852-63. PubMed ID: 26311113
[TBL] [Abstract][Full Text] [Related]
4. LUZP1: A new player in the actin-microtubule cross-talk.
Gonçalves J
Eur J Cell Biol; 2022; 101(3):151250. PubMed ID: 35738212
[TBL] [Abstract][Full Text] [Related]
5. LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation.
Gonçalves J; Sharma A; Coyaud É; Laurent EMN; Raught B; Pelletier L
J Cell Biol; 2020 Jul; 219(7):. PubMed ID: 32496561
[TBL] [Abstract][Full Text] [Related]
6. Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G; Yin Y; Tan Z; Liu J; Deng X; Yang Y
BMC Med Genomics; 2021 Jan; 14(1):24. PubMed ID: 33478437
[TBL] [Abstract][Full Text] [Related]
7. A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
Chi Y; Yao Y; Sun F; Zhang W; Zhang Z; Wang Y; Hao W
Ital J Pediatr; 2024 Jun; 50(1):121. PubMed ID: 38915054
[TBL] [Abstract][Full Text] [Related]
8. Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome.
Harrison SJ; Nishinakamura R; Jones KR; Monaghan AP
Dis Model Mech; 2012 May; 5(3):351-65. PubMed ID: 22228756
[TBL] [Abstract][Full Text] [Related]
9. Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O; Lebre AS; Doco Fenzy M; Spodenkiewicz M; Canivet E; Colosio C; Poirsier C
Am J Med Genet A; 2021 Mar; 185(3):937-944. PubMed ID: 33438842
[TBL] [Abstract][Full Text] [Related]
10. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
Marlin S; Blanchard S; Slim R; Lacombe D; Denoyelle F; Alessandri JL; Calzolari E; Drouin-Garraud V; Ferraz FG; Fourmaintraux A; Philip N; Toublanc JE; Petit C
Hum Mutat; 1999; 14(5):377-86. PubMed ID: 10533063
[TBL] [Abstract][Full Text] [Related]
11. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
Kiefer SM; Ohlemiller KK; Yang J; McDill BW; Kohlhase J; Rauchman M
Hum Mol Genet; 2003 Sep; 12(17):2221-7. PubMed ID: 12915476
[TBL] [Abstract][Full Text] [Related]
12. Endocrine abnormalities in Townes-Brocks syndrome.
Lawrence C; Hong-McAtee I; Hall B; Hartsfield J; Rutherford A; Bonilla T; Bay C
Am J Med Genet A; 2013 Sep; 161A(9):2266-73. PubMed ID: 23894113
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J; Taschner PE; Burfeind P; Pasche B; Newman B; Blanck C; Breuning MH; ten Kate LP; Maaswinkel-Mooy P; Mitulla B; Seidel J; Kirkpatrick SJ; Pauli RM; Wargowski DS; Devriendt K; Proesmans W; Gabrielli O; Coppa GV; Wesby-van Swaay E; Trembath RC; Schinzel AA; Reardon W; Seemanova E; Engel W
Am J Hum Genet; 1999 Feb; 64(2):435-45. PubMed ID: 9973281
[TBL] [Abstract][Full Text] [Related]
14. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM; Hopkin R; Bao L; Ware SM
Am J Med Genet A; 2012 Mar; 158A(3):533-40. PubMed ID: 22308078
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
Kohlhase J; Wischermann A; Reichenbach H; Froster U; Engel W
Nat Genet; 1998 Jan; 18(1):81-3. PubMed ID: 9425907
[TBL] [Abstract][Full Text] [Related]
16. Ocular features of Townes-Brocks syndrome.
Valikodath NG; Jain S; Miller M; Kaufman LM
J AAPOS; 2020 Apr; 24(2):115-118. PubMed ID: 31981611
[TBL] [Abstract][Full Text] [Related]
17. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.
Salerno A; Kohlhase J; Kaplan BS
Pediatr Nephrol; 2000 Jan; 14(1):25-8. PubMed ID: 10654325
[TBL] [Abstract][Full Text] [Related]
18. The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).
Barry JS; Reddy MA
Ophthalmic Genet; 2008 Dec; 29(4):177-80. PubMed ID: 19005989
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
Liberalesso PBN; Cordeiro ML; Karuta SCV; Koladicz KRJ; Nitsche A; Zeigelboim BS; Raskin S; Rauchman M
BMC Med Genet; 2017 Nov; 18(1):125. PubMed ID: 29110636
[TBL] [Abstract][Full Text] [Related]
20. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
Surka WS; Kohlhase J; Neunert CE; Schneider DS; Proud VK
Am J Med Genet; 2001 Aug; 102(3):250-7. PubMed ID: 11484202
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]