Literature DB >> 19213032

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

B West1, K E Bove, A M Slavotinek.   

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Year:  2009        PMID： 19213032      PMCID： PMC2710449          DOI： 10.1002/ajmg.a.32682

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

1.  An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.

Authors:  S Ceylaner; H E Gozer; G Ceylaner; I E Ertas; S U Kizilates; T Edguer
Journal:  Genet Couns       Date:  2006

2.  A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A.

Authors:  Riki Kawaguchi; Jiamei Yu; Jane Honda; Jane Hu; Julian Whitelegge; Peipei Ping; Patrick Wiita; Dean Bok; Hui Sun
Journal:  Science       Date:  2007-01-25       Impact factor: 47.728

3.  Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?

Authors:  M Berkenstadt; D Lev; R Achiron; M Rosner; G Barkai
Journal:  Am J Med Genet       Date:  1999-09-03

4.  A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

Authors:  Lin Li; Jueyang Wei
Journal:  Am J Med Genet A       Date:  2006-07-15       Impact factor: 2.802

5.  Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

Authors:  Robert D Steiner; Peter St J Dignan; Robert J Hopkin; Rafal Kozielski; Kevin E Bove
Journal:  Am J Med Genet       Date:  2002-02-15

6.  Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

Authors:  Jelena Martinovic-Bouriel; Céline Bernabé-Dupont; Christelle Golzio; Bettina Grattagliano-Bessières; Valérie Malan; Maryse Bonnière; Chantal Esculpavit; Catherine Fallet-Bianco; Véronique Mirlesse; Jerôme Le Bidois; Marie-Cécile Aubry; Michel Vekemans; Nicole Morichon; Heather Etchevers; Tania Attié-Bitach; Féréchté Encha-Razavi; Alexandra Benachi
Journal:  Am J Med Genet A       Date:  2007-02-01       Impact factor: 2.802

7.  Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Authors:  Christelle Golzio; Jelena Martinovic-Bouriel; Sophie Thomas; Soumaya Mougou-Zrelli; Bettina Grattagliano-Bessieres; Maryse Bonniere; Sophie Delahaye; Arnold Munnich; Ferechte Encha-Razavi; Stanislas Lyonnet; Michel Vekemans; Tania Attie-Bitach; Heather C Etchevers
Journal:  Am J Hum Genet       Date:  2007-04-11       Impact factor: 11.025

8.  The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

Authors:  David Chitayat; Hana Sroka; Sarah Keating; Randall S Colby; Greg Ryan; Ants Toi; Susan Blaser; Sandra Viero; Louise Devisme; Odile Boute-Bénéjean; Sylvie Manouvrier-Hanu; Geert Mortier; Bart Loeys; Anita Rauch; Pierre Bitoun
Journal:  Am J Med Genet A       Date:  2007-06-15       Impact factor: 2.802

9.  Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Authors:  Francesca Pasutto; Heinrich Sticht; Gerhard Hammersen; Gabriele Gillessen-Kaesbach; David R Fitzpatrick; Gudrun Nürnberg; Frank Brasch; Heidemarie Schirmer-Zimmermann; John L Tolmie; David Chitayat; Gunnar Houge; Lorena Fernández-Martínez; Sarah Keating; Geert Mortier; Raoul C M Hennekam; Axel von der Wense; Anne Slavotinek; Peter Meinecke; Pierre Bitoun; Christian Becker; Peter Nürnberg; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-01-29       Impact factor: 11.025
  9 in total
  12 in total

Review 1.  Eye development genes and known syndromes.

Authors:  Anne M Slavotinek
Journal:  Mol Genet Metab       Date:  2011-09-29       Impact factor: 4.797

Review 2.  Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives.

Authors:  Hui Sun
Journal:  Biochim Biophys Acta       Date:  2011-06-17

Review 3.  The membrane receptor for plasma retinol-binding protein, a new type of cell-surface receptor.

Authors:  Hui Sun; Riki Kawaguchi
Journal:  Int Rev Cell Mol Biol       Date:  2011       Impact factor: 6.813

Review 4.  Role of carotenoids and retinoids during heart development.

Authors:  Ioan Ovidiu Sirbu; Aimée Rodica Chiş; Alexander Radu Moise
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2020-01-22       Impact factor: 4.698

5.  Altered retinoid uptake and action contributes to cell survival in endometriosis.

Authors:  Mary Ellen Pavone; Scott Reierstad; Hui Sun; Magdy Milad; Serdar E Bulun; You-Hong Cheng
Journal:  J Clin Endocrinol Metab       Date:  2010-08-11       Impact factor: 5.958

Review 6.  Recent insights on the role and regulation of retinoic acid signaling during epicardial development.

Authors:  Suya Wang; Alexander R Moise
Journal:  Genesis       Date:  2019-05-08       Impact factor: 2.487

7.  ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Authors:  Mani Yahyavi; Hana Abouzeid; Ghada Gawdat; Anne-Sophie de Preux; Tong Xiao; Tanya Bardakjian; Adele Schneider; Alex Choi; Eric Jorgenson; Herwig Baier; Mohamad El Sada; Daniel F Schorderet; Anne M Slavotinek
Journal:  Hum Mol Genet       Date:  2013-04-15       Impact factor: 6.150

8.  Downregulation of STRA6 in adipocytes and adipose stromovascular fraction in obesity and effects of adipocyte-specific STRA6 knockdown in vivo.

Authors:  Laura Zemany; Bettina J Kraus; Julie Norseen; Tsugumichi Saito; Odile D Peroni; Randy L Johnson; Barbara B Kahn
Journal:  Mol Cell Biol       Date:  2014-01-13       Impact factor: 4.272

Review 9.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

10.  First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

Authors:  Jillian Casey; Riki Kawaguchi; Maria Morrissey; Hui Sun; Paul McGettigan; Jens E Nielsen; Judith Conroy; Regina Regan; Elaine Kenny; Paul Cormican; Derek W Morris; Peter Tormey; Muireann Ní Chróinín; Breandan N Kennedy; SallyAnn Lynch; Andrew Green; Sean Ennis
Journal:  Hum Mutat       Date:  2011-09-29       Impact factor: 4.878
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