A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency-Reference-Cited by-同舟云学术

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A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

Published:2010-04-16 Issue:6 Volume:127 Page:721-729
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ashkenazi-Hoffnung Liat,Lebenthal Yael,Wyatt Alexander W.,Ragge Nicola K.,Dateki Sumito,Fukami Maki,Ogata Tsutomu,Phillip Moshe,Gat-Yablonski Galia

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0820-9.pdf

Reference35 articles.

1. Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A, Brulet P (1995) Forebrain and midbrain regions are deleted in Otx2−/− mutants due to a defective anterior neuroectoderm specification during gastrulation. Development 121:3279–3290

2. Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389–3402

3. Ang SL, Jin O, Rhinn M, Daigle N, Stevenson L, Rossant J (1996) A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain. Development 122:243–252

4. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK (2007) SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 91(11):1471–1476

5. Chaney BA, Clark-Baldwin K, Dave V, Ma J, Rance M (2005) Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome. Biochemistry 44:7497–7511

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1. Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development;Frontiers in Molecular Neuroscience;2023-04-27

2. Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis;Ophthalmic Genetics;2021-11-18

3. The phenotypic spectrum associated with OTX2 mutations in humans;European Journal of Endocrinology;2021-07-01

4. Ocular coloboma: Genetic variants reveal a dynamic model of eye development;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-08-27

5. Development of the Pituitary Gland;Comprehensive Physiology;2020-03-12

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