These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
146 related articles for article (PubMed ID: 37828500)
1. Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients. Wang Q; Lin X; Lai K; Liu Y; Qin T; Tan H; Li J; Lin Z; Zhang X; Li X; Lin H; Chen W BMC Med Genomics; 2023 Oct; 16(1):241. PubMed ID: 37828500 [TBL] [Abstract][Full Text] [Related]
2. First Case of a Dominant De Novo Minale EMP; De Falco A; Agolini E; Novelli A; Russo R; Andolfo I; Iolascon A; Piscopo C Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38275611 [TBL] [Abstract][Full Text] [Related]
3. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Boyadjiev SA; Fromme JC; Ben J; Chong SS; Nauta C; Hur DJ; Zhang G; Hamamoto S; Schekman R; Ravazzola M; Orci L; Eyaid W Nat Genet; 2006 Oct; 38(10):1192-7. PubMed ID: 16980979 [TBL] [Abstract][Full Text] [Related]
4. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Boyadjiev SA; Kim SD; Hata A; Haldeman-Englert C; Zackai EH; Naydenov C; Hamamoto S; Schekman RW; Kim J Clin Genet; 2011 Aug; 80(2):169-76. PubMed ID: 21039434 [TBL] [Abstract][Full Text] [Related]
5. A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia. Cisarova K; Garavelli L; Caraffi SG; Peluso F; Valeri L; Gargano G; Gavioli S; Trimarchi G; Neri A; Campos-Xavier B; Superti-Furga A Am J Med Genet A; 2022 Jan; 188(1):319-325. PubMed ID: 34580982 [TBL] [Abstract][Full Text] [Related]
6. Novel compound heterozygous variant of Lin Y; Chen X; Liang C; Li D; Liu L; Li X Eur J Ophthalmol; 2023 Sep; 33(5):NP1-NP4. PubMed ID: 36262071 [TBL] [Abstract][Full Text] [Related]
7. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Garbes L; Kim K; Rieß A; Hoyer-Kuhn H; Beleggia F; Bevot A; Kim MJ; Huh YH; Kweon HS; Savarirayan R; Amor D; Kakadia PM; Lindig T; Kagan KO; Becker J; Boyadjiev SA; Wollnik B; Semler O; Bohlander SK; Kim J; Netzer C Am J Hum Genet; 2015 Mar; 96(3):432-9. PubMed ID: 25683121 [TBL] [Abstract][Full Text] [Related]
8. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. Gupta S; Fahiminiya S; Wang T; Dempsey Nunez L; Rosenblatt DS; Gibson WT; Gilfix B; Bergeron JJ; Jerome-Majewska LA Cold Spring Harb Mol Case Stud; 2016 May; 2(3):a000737. PubMed ID: 27148587 [TBL] [Abstract][Full Text] [Related]
10. Pathogenic variants in the Berry V; Pontikos N; Ionides A; Kalitzeos A; Quinlan RA; Michaelides M Ophthalmic Genet; 2022 Apr; 43(2):218-223. PubMed ID: 34748434 [TBL] [Abstract][Full Text] [Related]
11. Mutational spectrum in a Chinese cohort with congenital cataracts. Liu HL; Zhang DW; Hu FY; Xu P; Zhang SH; Wu JH Mol Genet Genomic Med; 2023 Sep; 11(9):e2196. PubMed ID: 37337769 [TBL] [Abstract][Full Text] [Related]
12. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. Narumi Y; Nishina S; Tokimitsu M; Aoki Y; Kosaki R; Wakui K; Azuma N; Murata T; Takada F; Fukushima Y; Kosho T Am J Med Genet A; 2014 May; 164A(5):1272-6. PubMed ID: 24664492 [TBL] [Abstract][Full Text] [Related]
13. X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review. Yan N; Xiao L; Hou C; Guo B; Fan W; Deng Y; Ma K BMC Med Genet; 2019 Mar; 20(1):41. PubMed ID: 30890130 [TBL] [Abstract][Full Text] [Related]
14. Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract. Qi C; He Y; Jiang C; Zhang X; Zhu P; Li W; Zhou H; Xue C; Xia X Mol Med Rep; 2023 Jun; 27(6):. PubMed ID: 37165913 [TBL] [Abstract][Full Text] [Related]
15. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940 [TBL] [Abstract][Full Text] [Related]
16. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Fromme JC; Ravazzola M; Hamamoto S; Al-Balwi M; Eyaid W; Boyadjiev SA; Cosson P; Schekman R; Orci L Dev Cell; 2007 Nov; 13(5):623-634. PubMed ID: 17981132 [TBL] [Abstract][Full Text] [Related]
17. Dynamic Glycosylation Governs the Vertebrate COPII Protein Trafficking Pathway. Cox NJ; Unlu G; Bisnett BJ; Meister TR; Condon BM; Luo PM; Smith TJ; Hanna M; Chhetri A; Soderblom EJ; Audhya A; Knapik EW; Boyce M Biochemistry; 2018 Jan; 57(1):91-107. PubMed ID: 29161034 [TBL] [Abstract][Full Text] [Related]
18. A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. Yu Y; Yu Y; Chen P; Li J; Zhu Y; Zhai Y; Yao K BMC Med Genet; 2014 Jan; 15():6. PubMed ID: 24405844 [TBL] [Abstract][Full Text] [Related]
19. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. Rechsteiner D; Issler L; Koller S; Lang E; Bähr L; Feil S; Rüegger CM; Kottke R; Toelle SP; Zweifel N; Steindl K; Joset P; Zweier M; Suter AA; Gogoll L; Haas C; Berger W; Gerth-Kahlert C JAMA Ophthalmol; 2021 Jul; 139(7):691-700. PubMed ID: 34014271 [TBL] [Abstract][Full Text] [Related]
20. Novel mutations in HSF4 cause congenital cataracts in Chinese families. Cao Z; Zhu Y; Liu L; Wu S; Liu B; Zhuang J; Tong Y; Chen X; Xie Y; Nie K; Lu C; Ma X; Yang J BMC Med Genet; 2018 Aug; 19(1):150. PubMed ID: 30143024 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]