124 related articles for article (PubMed ID: 35751431)
1. An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Ruscitti F; Cerminara M; Iascone M; Pezzoli L; Rosti G; Romano F; Ronchetto P; Martucciello G; Buratti S; Buffelli F; Bocciardi R; Puliti A; Divizia MT
Birth Defects Res; 2022 Jul; 114(12):674-681. PubMed ID: 35751431
[TBL] [Abstract][Full Text] [Related]
2. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A; Risolino M; Losa M; Cho MT; Monaghan KG; Schneidman-Duhovny D; Parisotto S; Herkert JC; Stegmann APA; Miller K; Shur N; Chui J; Muller E; DeBrosse S; Szot JO; Chapman G; Pachter NS; Winlaw DS; Mendelsohn BA; Dalton J; Sarafoglou K; Karachunski PI; Lewis JM; Pedro H; Dunwoodie SL; Selleri L; Shieh J
Hum Mol Genet; 2017 Dec; 26(24):4849-4860. PubMed ID: 29036646
[TBL] [Abstract][Full Text] [Related]
3.
Le Tanno P; Breton J; Bidart M; Satre V; Harbuz R; Ray PF; Bosson C; Dieterich K; Jaillard S; Odent S; Poke G; Beddow R; Digilio MC; Novelli A; Bernardini L; Pisanti MA; Mackenroth L; Hackmann K; Vogel I; Christensen R; Fokstuen S; Béna F; Amblard F; Devillard F; Vieville G; Apostolou A; Jouk PS; Guebre-Egziabher F; Sartelet H; Coutton C
J Med Genet; 2017 Jul; 54(7):502-510. PubMed ID: 28270404
[TBL] [Abstract][Full Text] [Related]
4. Inherited intragenic PBX1 deletion: Expanding the phenotype.
Fitzgerald KK; Powell-Hamilton N; Shillingford AJ; Robinson B; Gripp KW
Am J Med Genet A; 2021 Jan; 185(1):234-237. PubMed ID: 33098248
[TBL] [Abstract][Full Text] [Related]
5. Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P; Garland J; Byrne AB; Hardy TSE; Babic M; Feng J; Wang P; Ha T; King-Smith SL; Schreiber AW; Crawford A; Manton N; Moore L; Barnett CP; Scott HS
Am J Med Genet A; 2020 May; 182(5):1273-1277. PubMed ID: 32141698
[TBL] [Abstract][Full Text] [Related]
6. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Alankarage D; Szot JO; Pachter N; Slavotinek A; Selleri L; Shieh JT; Winlaw D; Giannoulatou E; Chapman G; Dunwoodie SL
Hum Mol Genet; 2020 May; 29(7):1068-1082. PubMed ID: 31625560
[TBL] [Abstract][Full Text] [Related]
7. A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case.
Nie L; Li Y; Xiao T; Zhang B; Zhao J; Hou W
Nephron; 2023; 147(5):311-316. PubMed ID: 36318887
[TBL] [Abstract][Full Text] [Related]
8. Targeted Exome Sequencing Identifies
Heidet L; Morinière V; Henry C; De Tomasi L; Reilly ML; Humbert C; Alibeu O; Fourrage C; Bole-Feysot C; Nitschké P; Tores F; Bras M; Jeanpierre M; Pietrement C; Gaillard D; Gonzales M; Novo R; Schaefer E; Roume J; Martinovic J; Malan V; Salomon R; Saunier S; Antignac C; Jeanpierre C
J Am Soc Nephrol; 2017 Oct; 28(10):2901-2914. PubMed ID: 28566479
[TBL] [Abstract][Full Text] [Related]
9. The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.
Mary L; Leclerc D; Gilot D; Belaud-Rotureau MA; Jaillard S
Hum Mutat; 2022 Sep; 43(9):1125-1148. PubMed ID: 35451537
[TBL] [Abstract][Full Text] [Related]
10. Identification of a Novel Heterozygous
Riedhammer KM; Siegel C; Alhaddad B; Montoya C; Kovacs-Nagy R; Wagner M; Meitinger T; Hoefele J
Front Pediatr; 2017; 5():251. PubMed ID: 29226118
[TBL] [Abstract][Full Text] [Related]
11. Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.
Sun M; Lou J; Li Q; Chen J; Li Y; Li D; Yuan H; Liu Y
Taiwan J Obstet Gynecol; 2019 Mar; 58(2):292-295. PubMed ID: 30910156
[TBL] [Abstract][Full Text] [Related]
12. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Safgren SL; Olson RJ; Pinto E Vairo F; Bothun ED; Hanna C; Klee EW; Schimmenti LA
Am J Med Genet A; 2022 Mar; 188(3):919-925. PubMed ID: 34797033
[TBL] [Abstract][Full Text] [Related]
13. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation.
Piper DE; Batchelor AH; Chang CP; Cleary ML; Wolberger C
Cell; 1999 Feb; 96(4):587-97. PubMed ID: 10052460
[TBL] [Abstract][Full Text] [Related]
14. The TALE homeodomain of PBX1 is involved in human primary testis-determination.
Eozenou C; Bashamboo A; Bignon-Topalovic J; Merel T; Zwermann O; Lourenco D; Lottmann H; Lichtenauer U; Rojo S; Beuschlein F; McElreavey K; Brauner R
Hum Mutat; 2019 Aug; 40(8):1071-1076. PubMed ID: 31058389
[TBL] [Abstract][Full Text] [Related]
15. A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.
Hu J; Yang H; Wang X; Ding J; Liao P; Zhu G; Qi C
Am J Med Genet A; 2023 Dec; 191(12):2850-2855. PubMed ID: 37571997
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive overview of the role of PBX1 in mammalian kidneys.
Zou F; Liu M; Sui Y; Liu J
Front Mol Biosci; 2023; 10():1106370. PubMed ID: 37006624
[TBL] [Abstract][Full Text] [Related]
17. Novel somatic
Petzold F; Jin W; Hantmann E; Korbach K; Schönauer R; Halbritter J
Clin Kidney J; 2022 Jul; 15(7):1333-1339. PubMed ID: 35756743
[TBL] [Abstract][Full Text] [Related]
18. Establishment of the TALE-code reveals aberrantly activated homeobox gene PBX1 in Hodgkin lymphoma.
Nagel S; Pommerenke C; Meyer C; MacLeod RAF; Drexler HG
PLoS One; 2021; 16(2):e0246603. PubMed ID: 33539429
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
Kosfeld A; Brand F; Weiss AC; Kreuzer M; Goerk M; Martens H; Schubert S; Schäfer AK; Riehmer V; Hennies I; Bräsen JH; Pape L; Amann K; Krogvold L; Bjerre A; Daniel C; Kispert A; Haffner D; Weber RG
Hum Mol Genet; 2017 May; 26(9):1716-1731. PubMed ID: 28334964
[TBL] [Abstract][Full Text] [Related]
20. Selective repression of transcriptional activators by Pbx1 does not require the homeodomain.
Lu Q; Kamps MP
Proc Natl Acad Sci U S A; 1996 Jan; 93(1):470-4. PubMed ID: 8552663
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
