相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Nonsense suppression therapies in ocular genetic diseases
Xia Wang et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2015)
CRIM1 haploinsufficiency causes defects in eye development in human and mouse
Filippo Beleggia et al.
HUMAN MOLECULAR GENETICS (2015)
Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
Brett Deml et al.
PLOS GENETICS (2015)
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis
Alex Choi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation
Arif O. Khan et al.
OPHTHALMIC GENETICS (2015)
Molecular Description of Eye Defects in the Zebrafish Pax6b Mutant, sunrise, Reveals a Pax6b-Dependent Genetic Network in the Developing Anterior Chamber
Masanari Takamiya et al.
PLOS ONE (2015)
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
Joe Rainger et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
Kathleen A. Williamson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Haploinsufficiency of BMP4 Gene May be the Underlying Cause of Frias Syndrome
Maria Luisa Martinez-Fernandez et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Exome Sequencing Identifies Compound Heterozygous Mutations in C12orf57 in Two Siblings With Severe Intellectual Disability, Hypoplasia of the Corpus Callosum, Chorioretinal Coloboma, and Intractable Seizures
Konrad Platzer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Genes and signaling networks regulated during zebrafish optic vesicle morphogenesis
Jun Yin et al.
BMC GENOMICS (2014)
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
N. Chassaing et al.
CLINICAL GENETICS (2014)
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia
B. Deml et al.
CLINICAL GENETICS (2014)
Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character
Margaret B. Fish et al.
DEVELOPMENTAL BIOLOGY (2014)
The genetic architecture of microphthalmia, anophthalmia and coloboma
Kathleen A. Williamson et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Peroxidasin is essential for eye development in the mouse
Xiaohe Yan et al.
HUMAN MOLECULAR GENETICS (2014)
Mutation of SALL2 causes recessive ocular coloboma in humans and mice
Daniel Kelberman et al.
HUMAN MOLECULAR GENETICS (2014)
Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families
Hana Abouzeid et al.
HUMAN MUTATION (2014)
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
Cheryl Y. Gregory-Evans et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Pleiotropic Effects of Sox2 during the Development of the Zebrafish Epithalamus
Sofia Pavlou et al.
PLOS ONE (2014)
Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice
Kenta Wada et al.
PLOS ONE (2014)
Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma
Megan Ulmer Carnes et al.
PLOS GENETICS (2014)
Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing
Alan F. Scott et al.
JAMA OPHTHALMOLOGY (2014)
Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia
Naiara Akizu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
Lucas Fares-Taie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia
Fatema Zahrani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
Myriam Srour et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Homozygous truncation of SIX6 causes complex microphthalmia in humans
M. A. Aldahmesh et al.
CLINICAL GENETICS (2013)
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family
W. Y. Ng et al.
CLINICAL GENETICS (2013)
Whole-genome copy number variation analysis in anophthalmia and microphthalmia
K. F. Schilter et al.
CLINICAL GENETICS (2013)
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
Mani Yahyavi et al.
HUMAN MOLECULAR GENETICS (2013)
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
Mika Asai-Coakwell et al.
HUMAN MOLECULAR GENETICS (2013)
The STRA6 Receptor Is Essential for Retinol-binding Protein-induced Insulin Resistance but Not for Maintaining Vitamin A Homeostasis in Tissues Other Than the Eye
Daniel C. Berry et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Gene dosage of Otx2 is important for fertility in male mice
Rachel Larder et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2013)
Teneurin-3 Specifies Morphological and Functional Connectivity of Retinal Ganglion Cells in the Vertebrate Visual System
Paride Antinucci et al.
CELL REPORTS (2013)
Microthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum
Simon E. Skalicky et al.
JAMA OPHTHALMOLOGY (2013)
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
Christina Gerth-Kahlert et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2013)
Apoptotic and Proliferative Defects Characterize Ocular Development in a Microphthalmic BMP Model
Curtis R. French et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
ABCB6 Mutations Cause Ocular Coloboma
Lejing Wang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
Maria Piccione et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Neural crest delamination and migration: From epithelium-to-mesenchyme transition to collective cell migration
Eric Theveneau et al.
DEVELOPMENTAL BIOLOGY (2012)
Focus on Molecules: Pitx3
Olga Medina-Martinez
EXPERIMENTAL EYE RESEARCH (2012)
Homozygous null mutation in ODZ3 causes microphthalmia in humans
Mohammed A. Aldahmesh et al.
GENETICS IN MEDICINE (2012)
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Kamron Khan et al.
HUMAN MOLECULAR GENETICS (2012)
Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development
Ishaq A. Viringipurampeer et al.
HUMAN MOLECULAR GENETICS (2012)
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Nicolas Chassaing et al.
JOURNAL OF MEDICAL GENETICS (2012)
SOX2 hypomorphism disrupts development of the prechordal floor and optic cup
Lee Langer et al.
MECHANISMS OF DEVELOPMENT (2012)
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation
Xueshan Xiao et al.
OPHTHALMIC GENETICS (2012)
Mab21l2 Is Essential for Embryonic Heart and Liver Development
Yohei Saito et al.
PLOS ONE (2012)
Vsx2 Controls Eye Organogenesis and Retinal Progenitor Identity Via Homeodomain and Non-Homeodomain Residues Required for High Affinity DNA Binding
Changjiang Zou et al.
PLOS GENETICS (2012)
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
K. F. Schilter et al.
CLINICAL GENETICS (2011)
Genetics of anterior segment dysgenesis disorders
Linda M. Reis et al.
CURRENT OPINION IN OPHTHALMOLOGY (2011)
Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations
Mohammed A. Aldahmesh et al.
GENETICS IN MEDICINE (2011)
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
Linda M. Reis et al.
HUMAN GENETICS (2011)
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype
Jillian Casey et al.
HUMAN MUTATION (2011)
A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice
Kenta Wada et al.
MAMMALIAN GENOME (2011)
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease
Noor M. Ghiasvand et al.
NATURE NEUROSCIENCE (2011)
MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens
Elena A. Sorokina et al.
PLOS ONE (2011)
FOXE3 Plays a Significant Role in Autosomal Recessive Microphthalmia
Linda M. Reis et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies
Anneke I. den Hollander et al.
BMC GENETICS (2010)
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
J. Gonzalez-Rodriguez et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2010)
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
Sibel Ugur Iseri et al.
HUMAN GENETICS (2010)
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
Ming Ye et al.
HUMAN MOLECULAR GENETICS (2010)
Bone Morphogenetic Protein 7 (BMP7) Mutations are Associated with Variable Ocular, Brain, Ear, Palate, and Skeletal Anomalies
Alexander W. Wyatt et al.
HUMAN MUTATION (2010)
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 416insG mice
Michael Rosemann et al.
MAMMALIAN GENOME (2010)
Microphthalmia in Texel Sheep Is Associated with a Missense Mutation in the Paired-Like Homeodomain 3 (PITX3) Gene
Doreen Becker et al.
PLOS ONE (2010)
Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia
Adele Schneider et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Compound Heterozygosity for Mutations in PAX6 in a Patient With Complex Brain Anomaly, Neonatal Diabetes Mellitus, and Microophthalmia
Benjamin D. Solomon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease
J. P. Kumar
CELLULAR AND MOLECULAR LIFE SCIENCES (2009)
Keeping an eye on retinoic acid signaling during eye development
Gregg Duester
CHEMICO-BIOLOGICAL INTERACTIONS (2009)
Novel SOX2 partner-factor domain mutation in a four-generation family
Marija Mihelec et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
Mika Asai-Coakwell et al.
HUMAN MOLECULAR GENETICS (2009)
Phenotypic Spectrum of STRA6 Mutations: from Matthew-Wood Syndrome to Non-lethal Anophthalmia
Nicolas Chassaing et al.
HUMAN MUTATION (2009)
Deletion of BMP7 Affects the Development of Bones, Teeth, and Other Ectodermal Appendages of the Orofacial Complex
Vasiliki Zouvelou et al.
JOURNAL OF EXPERIMENTAL ZOOLOGY PART B-MOLECULAR AND DEVELOPMENTAL EVOLUTION (2009)
Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells
Hsin-Yi Ho et al.
MECHANISMS OF DEVELOPMENT (2009)
Vsx2 in the zebrafish retina: restricted lineages through derepression
Marta Vitorino et al.
NEURAL DEVELOPMENT (2009)
An essential role for Radar (Gdf6a) in inducing dorsal fate in the zebrafish retina
Nathan J. Gosse et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mutations in BMP4 cause eye, brain, and digit developmental anomalies:: Overlap between the BMP4 and hedgehog signaling pathways
Preeti Bakrania et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice
Johann Boehm et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Novel SOX2 mutation associated with ocular coloboma in a Chinese family
Panfeng Wang et al.
ARCHIVES OF OPHTHALMOLOGY (2008)
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly
Virginia M. Ginocchio et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
Novel Heterozygous OTX2 Mutations and Whole Gene Deletions in Anophthalmia, Microphthalmia and Coloboma
Alexander Wyatt et al.
HUMAN MUTATION (2008)
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
May Tassabehji et al.
HUMAN MUTATION (2008)
Growth/differentiation factor 3 signals through ALK7 and regulates accumulation of adipose tissue and diet-induced obesity
Olov Andersson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Zebrafish bmp4 functions during late gastrulation to specify ventroposterior cell fates
Heather L. Stickney et al.
DEVELOPMENTAL BIOLOGY (2007)
Ten_m3 regulates eye-specific patterning in the mammalian visual pathway and is required for binocular vision
Catherine A. Leamey et al.
PLOS BIOLOGY (2007)
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
R. Alex Henderson et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
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
David Chitayat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6
Christelle Golzio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Molecular mechanisms of optic vesicle development: Complexities, ambiguities and controversies
Ruben Adler et al.
DEVELOPMENTAL BIOLOGY (2007)
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
Francesca Pasutto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage
Asa Blixt et al.
DEVELOPMENTAL BIOLOGY (2007)
GDF6, a novel locus for a spectrum of ocular developmental anomalies
Mika Asai-Coakwell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Zebrafish foxe3:: Roles in ocular lens morphogenesis through interaction with pitx3
Xiaohai Shi et al.
MECHANISMS OF DEVELOPMENT (2006)
Eye and neural defects associated with loss of GDF6
Meredith L. Hanel et al.
BMC DEVELOPMENTAL BIOLOGY (2006)
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans
Sophie Valleix et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning
A Molotkov et al.
DEVELOPMENT (2006)
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
OV Taranova et al.
GENES & DEVELOPMENT (2006)
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
C Bidinost et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
A. M. Hever et al.
CLINICAL GENETICS (2006)
Fate maps of neural crest and mesoderm in the mammalian eye
PJ Gage et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Heterozygous mutations of OTX2 cause severe ocular malformations
NK Ragge et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Conditional alleles for activation and inactivation of the mouse Rx homeobox gene
VA Voronina et al.
GENESIS (2005)
Growth factor regulation of lens development
FJ Lovicu et al.
DEVELOPMENTAL BIOLOGY (2005)
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
VA Voronina et al.
HUMAN MOLECULAR GENETICS (2004)
CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
U Bar-Yosef et al.
HUMAN GENETICS (2004)
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia
ME Gallardo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Zebrafish rx3 and mab21l2 are required during eye morphogenesis
BN Kennedy et al.
DEVELOPMENTAL BIOLOGY (2004)
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma
S Aijaz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Requirement for Mab2112 during development of murine retina and ventral body wall
R Yamada et al.
DEVELOPMENTAL BIOLOGY (2004)
Homeobox gene Pitx3 and its role in the development of dopamine neurons of the substantia nigra
MP Smidt et al.
CELL AND TISSUE RESEARCH (2004)
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
C Dubourg et al.
HUMAN MUTATION (2004)
A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment
V Dupé et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Loss of eyes in zebrafish caused by mutation of chokh/rx3
F Loosli et al.
EMBO REPORTS (2003)
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations
N Azuma et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Requirement for Pax6 in corneal morphogenesis: a role in adhesion
J Davis et al.
JOURNAL OF CELL SCIENCE (2003)
Morphology and morphogenesis of hereditary microphthalmia in Texel sheep
JS van der Linde-Sipman et al.
JOURNAL OF COMPARATIVE PATHOLOGY (2003)
Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy
T Ramaesh et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Mutations in SOX2 cause anophthalmia
J Fantes et al.
NATURE GENETICS (2003)
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects
MC Vincent et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia
LA Schimmenti et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Embryonic retinal gene expression in sonic-you mutant zebrafish
DL Stenkamp et al.
DEVELOPMENTAL DYNAMICS (2002)
Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse
K Niederreither et al.
MECHANISMS OF DEVELOPMENT (2002)
The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene
P Tucker et al.
GENESIS (2001)
Retinal ganglion cell genesis requires lakritz, a zebrafish atonal homolog
JN Kay et al.
NEURON (2001)
Temporal and spatial effects of Sonic hedgehog signaling in chick eye morphogenesis
XM Zhang et al.
DEVELOPMENTAL BIOLOGY (2001)
A large-scale in situ screen provides molecular evidence for the induction of eye anterior segment structures by the developing lens
CJ Thut et al.
DEVELOPMENTAL BIOLOGY (2001)
A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice
DK Rieger et al.
GENOMICS (2001)
Requirement for math5 in the development of retinal ganglion cells
SW Wang et al.
GENES & DEVELOPMENT (2001)
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
EF Percin et al.
NATURE GENETICS (2000)
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice
EV Semina et al.
HUMAN MOLECULAR GENETICS (2000)
The lens organizes the anterior segment: Specification of neural crest cell differentiation in the avian eye
DC Beebe et al.
DEVELOPMENTAL BIOLOGY (2000)
Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes
F Fougerousse et al.
HUMAN MOLECULAR GENETICS (2000)
The mammalian Odz gene family: Homologs of a Drosophila pair-rule gene with expression implying distinct yet overlapping developmental roles
T Ben-Zur et al.
DEVELOPMENTAL BIOLOGY (2000)
分享论文
