125 related articles for article (PubMed ID: 37586836)
21. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J; Pelcastre EL; Tovilla-Canales JL; Garcia-Ortiz JE; Amato-Almanza M; Villanueva-Mendoza C; Espinosa-Mattar Z; Zenteno JC
Br J Ophthalmol; 2010 Aug; 94(8):1100-4. PubMed ID: 20494911
[TBL] [Abstract][Full Text] [Related]
22. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
Skalicky SE; White AJ; Grigg JR; Martin F; Smith J; Jones M; Donaldson C; Smith JE; Flaherty M; Jamieson RV
JAMA Ophthalmol; 2013 Dec; 131(12):1517-24. PubMed ID: 24177921
[TBL] [Abstract][Full Text] [Related]
23. The genetic architecture of microphthalmia, anophthalmia and coloboma.
Williamson KA; FitzPatrick DR
Eur J Med Genet; 2014 Aug; 57(8):369-80. PubMed ID: 24859618
[TBL] [Abstract][Full Text] [Related]
24. A1120, a nonretinoid RBP4 antagonist, inhibits formation of cytotoxic bisretinoids in the animal model of enhanced retinal lipofuscinogenesis.
Dobri N; Qin Q; Kong J; Yamamoto K; Liu Z; Moiseyev G; Ma JX; Allikmets R; Sparrow JR; Petrukhin K
Invest Ophthalmol Vis Sci; 2013 Jan; 54(1):85-95. PubMed ID: 23211825
[TBL] [Abstract][Full Text] [Related]
25. Retinol-binding protein 4 induces inflammation in human endothelial cells by an NADPH oxidase- and nuclear factor kappa B-dependent and retinol-independent mechanism.
Farjo KM; Farjo RA; Halsey S; Moiseyev G; Ma JX
Mol Cell Biol; 2012 Dec; 32(24):5103-15. PubMed ID: 23071093
[TBL] [Abstract][Full Text] [Related]
26. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J; Pehlivan D; Johansson S; Bengani H; Sanchez-Pulido L; Williamson KA; Ture M; Barker H; Rosendahl K; Spranger J; Horn D; Meynert A; Floyd JA; Prescott T; Anderson CA; Rainger JK; Karaca E; Gonzaga-Jauregui C; Jhangiani S; Muzny DM; Seawright A; Soares DC; Kharbanda M; Murday V; Finch A; ; ; Gibbs RA; van Heyningen V; Taylor MS; Yakut T; Knappskog PM; Hurles ME; Ponting CP; Lupski JR; Houge G; FitzPatrick DR
Am J Hum Genet; 2014 Jun; 94(6):915-23. PubMed ID: 24906020
[TBL] [Abstract][Full Text] [Related]
27. Adipokine RBP4 drives ovarian cancer cell migration.
Wang Y; Wang Y; Zhang Z
J Ovarian Res; 2018 Apr; 11(1):29. PubMed ID: 29642915
[TBL] [Abstract][Full Text] [Related]
28. Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Kesim Y; Ceroni F; Damián A; Blanco-Kelly F; Ayuso C; Williamson K; Paquis-Flucklinger V; Bax DA; Plaisancié J; Rieubland C; Chamlal M; Cortón M; Chassaing N; Calvas P; Ragge NK
Eur J Hum Genet; 2023 Oct; 31(10):1175-1180. PubMed ID: 36997679
[TBL] [Abstract][Full Text] [Related]
29. A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.
Cehajic-Kapetanovic J; Jasani KM; Shanks M; Clouston P; MacLaren RE
Ophthalmic Genet; 2020 Jun; 41(3):288-292. PubMed ID: 32323592
[TBL] [Abstract][Full Text] [Related]
30. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Casey J; Kawaguchi R; Morrissey M; Sun H; McGettigan P; Nielsen JE; Conroy J; Regan R; Kenny E; Cormican P; Morris DW; Tormey P; Chróinín MN; Kennedy BN; Lynch S; Green A; Ennis S
Hum Mutat; 2011 Dec; 32(12):1417-26. PubMed ID: 21901792
[TBL] [Abstract][Full Text] [Related]
31. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
Reis LM; Semina EV
Birth Defects Res C Embryo Today; 2015 Jun; 105(2):96-113. PubMed ID: 26046913
[TBL] [Abstract][Full Text] [Related]
32. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
[TBL] [Abstract][Full Text] [Related]
33. Rescue of retinal morphology and function in a humanized mouse at the mouse retinol-binding protein locus.
Liu L; Suzuki T; Shen J; Wakana S; Araki K; Yamamura KI; Lei L; Li Z
Lab Invest; 2017 Apr; 97(4):395-408. PubMed ID: 28134916
[TBL] [Abstract][Full Text] [Related]
34. Retinol-binding protein 4 downregulation during osteogenesis and its localization to non-endocytic vesicles in human cranial suture mesenchymal cells suggest a novel tissue function.
Leitch VD; Dwivedi PP; Anderson PJ; Powell BC
Histochem Cell Biol; 2013 Jan; 139(1):75-87. PubMed ID: 22878527
[TBL] [Abstract][Full Text] [Related]
35. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
Schilter KF; Reis LM; Schneider A; Bardakjian TM; Abdul-Rahman O; Kozel BA; Zimmerman HH; Broeckel U; Semina EV
Clin Genet; 2013 Nov; 84(5):473-81. PubMed ID: 23701296
[TBL] [Abstract][Full Text] [Related]
36. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA; Hall HN; Owen LJ; Livesey BJ; Hanson IM; Adams GGW; Bodek S; Calvas P; Castle B; Clarke M; Deng AT; Edery P; Fisher R; Gillessen-Kaesbach G; Heon E; Hurst J; Josifova D; Lorenz B; McKee S; Meire F; Moore AT; Parker M; Reiff CM; Self J; Tobias ES; Verheij JBGM; Willems M; Williams D; van Heyningen V; Marsh JA; FitzPatrick DR
Genet Med; 2020 Mar; 22(3):598-609. PubMed ID: 31700164
[TBL] [Abstract][Full Text] [Related]
37. First trimester placental retinol-binding protein 4 (RBP4) and pregnancy-associated placental protein A (PAPP-A) in the prediction of early-onset severe pre-eclampsia.
Yliniemi A; Nurkkala MM; Kopman S; Korpimaki T; Kouru H; Ryynanen M; Marttala J
Metabolism; 2015 Apr; 64(4):521-6. PubMed ID: 25633269
[TBL] [Abstract][Full Text] [Related]
38. Plasma Retinoid Concentrations Are Altered in Pregnant Women.
Czuba LC; Fay EE; LaFrance J; Smith CK; Shum S; Moreni SL; Mao J; Isoherranen N; Hebert MF
Nutrients; 2022 Mar; 14(7):. PubMed ID: 35405978
[TBL] [Abstract][Full Text] [Related]
39. Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.
Leung KCP; Ko TCS
Ophthalmic Genet; 2020 Aug; 41(4):373-376. PubMed ID: 32506980
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
