Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Cited by (362)

Items 301–362 of 362

1. Role of COUP-TFII in Congenital Diaphragmatic Hernia
   Sumiyasu Ishii, Sophia Y. Tsai, Ming‐Jer Tsai · 2010 · Elsevier eBooks
2. Disorders of the eye as a whole
   Reecha Sachdeva, Elias I. Traboulsi · 2013 · Elsevier eBooks
3. Developmental biology of the eye
   David R FitzPatrick · 2017 · Elsevier eBooks
4. Fetal skin fibroblasts: A cell model for studying the retinoid pathway in congenital diaphragmatic hernia
   Carole Goumy, Karen Coste, Geoffroy Marceau, Laëtitia Gouas, Andréï Tchirkov, Philippe Vago, Denis Gallot, Vincent Sapin · 2010 · Birth Defects Research Part A Clinical and Molecular Teratology
5. Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan
   Muhammad Dawood, Xinran Ji, Irfan Ullah Shah, Niamat Ali Khan, Shifeng Xue, Shamim Saleha · 2025 · Journal of Human Genetics
6. Vitamin A deficiency attenuates cardiac rupture in Stra6-deficient hearts following ischemic injury
   Yannick Smolenski, Natali Froese, Paolo Galuppo, Christopher Werlein, Anna Gigina, Steven Roger Talbot, Sergej Erschow, Dirk Wedekind, Robert Geffers, Norbert B. Ghyselinck et al. · 2025 · Frontiers in Cardiovascular Medicine
7. Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review
   Edouard Leyne, Jérôme Bouligand, Richard Wagner, Maëlig Abgral, Alexandra Benachi, Alexandre Joseph Vivanti · 2025 · European Journal of Pediatrics
8. Retinoic acid in health and disease
   Maria Teresa De Angelis, Vincenzo Dattilo, Niccolò Vono, Valentina Lise, Michela Reda, Carmela De Marco, Antonia Rizzuto, Francesco Trapasso, Giuseppe Viglietto, Gianluca Santamaria · 2026 · Signal Transduction and Targeted Therapy
9. A Genetic Clog in the Vitamin A Transport Machinery
   Ming Zhong, Hui Sun · 2015 · Cell
10. Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects
    Brian P. Brooks, Elias I. Traboulsi · 2012
11. Sensory Organ Disorders (Retina, Auditory, Olfactory, Gustatory)
    Deda C. Gillespie · 2013 · Elsevier eBooks
12. Anophthalmia, Microphthalmia, and Uveal Coloboma
    Brian P. Brooks · 2013 · Elsevier eBooks
13. Serum Retinol-Binding Protein, Obesity, and Insulin Resistance
    Pangala V. Bhat, Daniel-Constantin Manolescu · 2013 · CRC Press eBooks
14. Genetics, Epidemiology, and Counseling
    FABIAN KOOS, Emmanuèle C. Délot, Joseph K. Perloff · 2009 · Elsevier eBooks
15. Genetic Abnormalities With Anophthalmia, Microphthalmia, and Colobomas
    Nikisha Q. Richards, Adam E. Pflugrath, Chetna K. Pande, Natario L. Couser · 2018 · Elsevier eBooks
16. Pediatric Diseases
    Helmut Popper · 2016 · Springer eBooks
17. Bibliometric analysis of microphthalmos and anophthalmos over 20 years: from 2004 to 2023
    Minghui Wang, Ju Zhang · 2024 · International Journal of Ophthalmology
18. A Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome
    Metin Demirkaya · 2009 · International Journal of Human Genetics
19. Optic Nerve: Developmental Anomalies and Common Tumors
    Hind M. Alkatan, Daniah Alshowaeir, Tariq A. Alzahem · 2019 · IntechOpen eBooks
20. Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene
    Saini, Ashish, Almasarweh, Saleem, Acosta, Stephanie, Jayakar, Parul, Janvier, Michelin, Wong, Terence C., Salyakina, Daria, Sasaki, Jun · 2022 · Progress in Pediatric Cardiology
21. Controle da expressão do gene ALDH1A2 (RALDH2) durante o desenvolvimento: uma abordagem filogenética.
    Roberta M. Cravo · 2008
22. Mutations Involving RBP4 and SOX3 Underlie Two Novel Forms of Congenital Eye Malformations.
    Christopher M. Chou · 2012 · Deep Blue (University of Michigan)
23. Physiological mechanisms of nutrient transport: Vitamin A and retinol-binding protein
    Jie Chen · 2009 · Summit (Simon Fraser University)
24. Retinoids and the Visual Cycle
    Darwin Babino, Johannes v. Lintig · 2015
25. Maladies chromosomiques constitutionnelles : corrélations génotype-phénotype
    Carole Goumy · 2009 · HAL
26. Impact of Impaired Maternal Vitamin A Status on Infant Eyes
    David John Coman, Glen A. Gole · 2014 · Elsevier eBooks
27. Genetic Factors in the Etiology of Congenital Diaphragmatic Hernia
    Merel Klaassens · 2007 · RePub (Erasmus University Rotterdam)
28. Variantes do gene RALDH2 e doenças cardíacas congênitas.
    Marilene Pavan · 2007
29. Tracheobronchial innervation is deficient in infants and rats with congenital diaphragmatic hernia and it is rescued by retinoic acid and amniotic fluid stem cells
    Federica Pederiva · 2014 · Biblos-e Archivo (Universidad Autónoma de Madrid)
30. A Black Hole? Epidemiological and molecular biological studies on the etiology of Congenital Diaphragmatic Hernia
    Leonardus Beurkens · 2010 · RePub (Erasmus University Rotterdam)
31. Dysplasie alvéolocapillaire et hypertension artérielle pulmonaire
    Xavier Jaïs, Jacques de BLIC · 2009 · Revue des Maladies Respiratoires Actualités
32. Metabolic and pathological role of retinyl esters: The role of lecithin:retinol acyl transferase, (LRAT)
    Sheila M. O’Byrne · ProQuest Demo Repository
33. The Interactions for the RBP Receptor, Stimulated by Retinoic Acid Gene 6
    Kate McQuaid · 2013 · Maynooth University ePrints and eTheses Archive (Maynooth University)
34. Retinoic acid in adipocyte biology
    Daniel C. Berry · 2011 · OhioLink ETD Center (Ohio Library and Information Network)
35. RBP urinária e sérica: associação com doença renal crônica e fatores de risco cardiovascular
    Maria Alice Muniz Domingos · 2016
36. Molecular Induction of Alveolar Regeneration
    Matthew David Hind, Siân V. Stinchcombe · 2010 · IMPERIAL COLLEGE PRESS eBooks
37. RBP urinária e sérica: associação com doença renal crônica e fatores de risco cardiovascular
    Programa de Nefrologia, Maria de Oliveira Titan, São Paulo · 2015
38. Molecular Characterization of Two Human Lens Epithelial Cell Lines: HLE-B3 And SRA01/O4
    Joshua R. Barton · 2016 · Library, Museums and Press - UDSpace (University of Delaware)
39. Investigating the dual roles of STRA6 in cell signaling and vitamin A trafficking
    Christina Elaine Schulte · 2012
40. Vitamin A and its association with Congenital Diaphragmatic Hernia
    Ayanna W. Rocke · 2019 · ERA: Education and Research Archive (University of Alberta)
41. Genetics of Microphthalmia: Global and Indian Perspectives
    Sankaranarayanan Rajkumar, Vidya Gopinathan Nair, Abhay Raghukant Vasavada · 2021 · Essentials in ophthalmology/Essentials ophthalmology
42. Pediatric Pulmonary Pathology
    Helmut Popper · 2021 · Springer eBooks
43. STRA6, as a Novel binding receptor of COVID-19 (Insilco study)
    Mahmoud, Tamer Haydara, Israa Mohamed Shamkh, Amr Kamel Khalil Ahmed · 2021 · Research Square
44. STRA6 (vitamin A receptor), as a Novel binding receptor of COVID-19 (A breakthrough)
    Mahmoud, Tamer Haydara, Israa Mohamed Shamkh, Amr Kamel Khalil Ahmed · 2021 · Research Square
45. Modelling adverse drug reactions using induced pluripotent stem cell derived cardiomyocytes (iPSC-CMs)
    Effimia Christidi · 2021 · cIRcle (University of British Columbia)
46. Faculty Opinions recommendation of Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
    Lawrence M. Nogee, Adam Gower · 2010 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
47. TITF1 Screening in Human Congenital Diaphragmatic Hernia (CDH)
    Maria Eugenia Gulino, Giuseppe Martucciello, Elio Biffali, Patrizia Morbini, Roberta Patti, Marco Borra, Maria Grazia Scuderi · 2022 · Children
48. Disorders of the eye as a whole
    Sunju Park, Elias I. Traboulsi · 2017 · Elsevier eBooks
49. Anti-inflammatory immunomodulation for the treatment of Congenital Diaphragmatic Hernia
    Mayte Vallejo‐Cremades, Javier Merino, Rita Carmona, Laura Córdoba, Beatriz Salvador, Leopoldo Martínez, Juan Antonio Tovar, Miguel Ángel Llamas, Ramón Muñoz‐Chápuli, Manuel Fresno · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
50. Retinoids and the Vitamin a Receptor STRA6 in Health and Disease
    Vinesh Dhokia, Salvador Macip · 2024 · Advances in biochemistry in health and disease
51. Efficient conditional inactivation of Rdh10 reveals important role of retinoic acid during lung branching morphogenesis.
    Nhut Quang Huy Tran · 2020
52. Anophthalmia, Microphthalmia, and Uveal Coloboma
    Paige M. Brooks, Brian P. Brooks · 2024 · Elsevier eBooks
53. Anophthalmia, Colobomatous Microphthalmia, and Optic Fissure Closure Defects
    Matthew D. Benson, Elias I. Traboulsi, Brian P. Brooks · 2025
54. Pediatric Pulmonary Pathology
    Helmut Popper · 2025 · Springer eBooks
55. Biosynthesis of all-trans-Retinoic Acid and Regulation of Retinoids Homeostasis in Primary Hippocampal Astrocytes and Neurons
    Chao Wang · 2010 · eScholarship (California Digital Library)
56. Additional file 1 of Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders
    Zhang, Yuanyuan, Liu, Xiaoliang, Gao, Haiming, Wanting Cui, Zhang, Bijun, Zhao, Yanyan · 2021 · Figshare
57. Efficiency of all-trans retinoic acid on colon cancer
    Laleh Shariati, Fatemeh Hajibabaie, Navid Abedpoor · 2026 · Elsevier eBooks
58. Spatiotemporal roles of retinoic acid signaling in the cephalochordate amphioxus
    Jie Chen · 2011
59. Investigation of mechanisms regulating second heart field progenitor cell addition to alternate poles of the mouse heart and the regulation of myogenic fate in cardiopharyngeal mesoderm
    Christopher De Bono · 2017 · theses.fr (ABES)
60. Caractérisation du rôle clé de Mab21l2 dans le développement de la rétine et du rhombencéphale chez le poisson-zèbre
    Anaïs Vitrac · 2020
61. Maternal nutrition determines the variable expressivity of STRA6-associated eye malformations
    Aicha Saadane, Johannes v. Lintig · 2026 · Proceedings of the National Academy of Sciences
62. Retinoid biology from embryonic patterning to adult tissue homeostasis: metabolism, RAR signaling, disease mechanisms, and clinical translation
    Jiří Bufka, Lenka Vaňková, Josef Sýkora, Jan Schwarz, Věra Křížková · 2026 · Experimental and Molecular Pathology