X. Jiao

发表

Patterns of Crystallin Gene Expression in Differentiation State Specific Regions of the Embryonic Chicken Lens

M. Kantorow, Zhiwei Ma, D. Chauss, 2022, Investigative ophthalmology & visual science.

Retinal Development and Pathophysiology in Kcnj13 Knockout Mice

P. Shahi, B. Pattnaik, Zhiwei Ma, 2022, Frontiers in Cell and Developmental Biology.

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

M. Kaiser-Kupfer, J. Heckenlively, D. Schorderet, 2004, American journal of human genetics.

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

N. Katsanis, E. Berson, S. Riazuddin, 2011, Investigative ophthalmology & visual science.

Analysis of ocular hypopigmentation in Rab38cht/cht mice.

W. Pavan, M. Huizing, Richard S. Smith, 2007, Investigative ophthalmology & visual science.

A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma

M. C. Leske, N. Mendell, R. Agarwala, 2003, Human Genetics.

Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families.

M. C. Leske, B. Nemesure, A. Hennis, 2006, Molecular vision.

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

S. Riazuddin, Arif O. Khan, X. Jiao, 2015, PloS one.

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

S. Riazuddin, M. Shahzad, Ramla Ashfaq, 2022, Scientific Reports.

Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.

X. Jiao, J. Hejtmancik, R. Sperduto, 2003, Molecular vision.

Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter

Zhiwei Ma, X. Jiao, J. Hejtmancik, 2016, Scientific Reports.

Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts

X. Jiao, J. Hejtmancik, C. Pang, 2022, Children.

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

D. Schorderet, X. Jiao, J. Hejtmancik, 2005, American journal of human genetics.

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

D. Schorderet, X. Jiao, J. Hejtmancik, 2003, Human Genetics.

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

P. Garg, X. Jiao, J. Hejtmancik, 2006, Journal of Medical Genetics.

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

M. Kantorow, S. Riazuddin, M. Frydman, 2011, American journal of human genetics.

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

I. MacDonald, X. Jiao, J. Hejtmancik, 2010, Investigative ophthalmology & visual science.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

P. Sieving, Shaheen N. Khan, S. Riazuddin, 2017, Investigative ophthalmology & visual science.

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

P. Sieving, N. Katsanis, I. MacDonald, 2010, American journal of human genetics.

Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

P. Sieving, N. Katsanis, I. MacDonald, 2010 .

Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation

M. Kantorow, Zhiwei Ma, Joshua Disatham, 2022, Epigenetics & chromatin.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

M. Gorin, Xinjing Wang, E. Traboulsi, 2017, European Journal of Human Genetics.

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

P. Sieving, S. Riazuddin, N. Nakaya, 2010, American journal of human genetics.

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations

X. Jiao, J. Hejtmancik, Xueshan Xiao, 2011, Molecular vision.

CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

S. Riazuddin, E. Baple, A. Crosby, 2022, Frontiers in Genetics.

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

Kapil Bharti, Peter J Munson, Xiaodong Jiao, 2009, Proceedings of the National Academy of Sciences.

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

S. Riazuddin, S. Riazuddin, M. Shahzad, 2021, Human Genetics.

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

S. Riazuddin, S. Riazuddin, M. Shahzad, 2021, Human genetics.

Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways

Zhiwei Ma, X. Jiao, J. Hejtmancik, 2017, Scientific Reports.

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

M. Trese, B. Shastry, X. Jiao, 2004, American journal of human genetics.

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

S. Riazuddin, X. Jiao, S. Amer Riazuddin, 2018, Human Genomics.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

J. Lupski, P. Sieving, S. Jhangiani, 2018, PLoS genetics.

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa

X. Jiao, J. Hejtmancik, Lijin Dong, 2017, Scientific Reports.

Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.

Baitang Ning, Min Zhou, Xiaodong Jiao, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

M. Kaiser-Kupfer, D. Schorderet, A. Kanai, 2000, American journal of human genetics.

Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish)

X. Jiao, J. Hejtmancik, T. Yoshimatsu, 2019, bioRxiv.

SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation

X. Jiao, J. Hejtmancik, Lili Lian, 2023, Investigative ophthalmology & visual science.

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation

X. Jiao, J. Hejtmancik, Yueqiu Tan, 2020, Eye.

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

P. Sieving, S. Riazuddin, X. Jiao, 2014, Molecular vision.

Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.

P. Sieving, S. Riazuddin, S. Riazuddin, 2006, Molecular vision.

CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies

M. C. Leske, B. Nemesure, A. Hennis, 2012, PloS one.

Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados

M. C. Leske, L. Jorde, J. Hoh, 2009, Proceedings of the National Academy of Sciences.

Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort.

X. Jiao, J. Hejtmancik, Periasamy Sundaresan, 2012, Investigative ophthalmology & visual science.

Novel compound heterozygous mutations in CYP1B1 identified in a Chinese family with developmental glaucoma.

X. Jiao, J. Hejtmancik, S. Cai, 2021, Molecular medicine reports.

The EPHA2 gene is associated with cataracts linked to chromosome 1p

X. Jiao, J. Hejtmancik, T. Bennett, 2008, Molecular vision.

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Shaheen N. Khan, S. Riazuddin, X. Jiao, 2017, Investigative ophthalmology & visual science.

Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.

A. Edwards, R. Ritter, X. Jiao, 2004, Investigative ophthalmology & visual science.

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

S. Riazuddin, S. Riazuddin, L. Amiri-Kordestani, 2009, Molecular vision.

CHARACTERIZATION OF MACULAR NEOVASCULARIZATION IN BIETTI CRYSTALLINE DYSTROPHY USING MULTIMODAL IMAGING MODALITIES

X. Jiao, J. Hejtmancik, Qian Li, 2022, Retina.

A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury

M. Agbaga, Zhiwei Ma, X. Jiao, 2022, International journal of molecular sciences.

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia

X. Jiao, J. Hejtmancik, Junwen Wang, 2023, Investigative ophthalmology & visual science.

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

A. Edwards, X. Jiao, J. Hejtmancik, 2008, American journal of human genetics.

High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes.

X. Jiao, Xueshan Xiao, Shi-qiang Li, 2009, Investigative ophthalmology & visual science.

Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia

X. Jiao, J. Hejtmancik, Shi-qiang Li, 2012, Molecular vision.

Differences in practice and preferences associated with truth-telling to cancer patients

X. Jiao, Yan Wang, X. Ye, 2020, Nursing ethics.

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

S. Riazuddin, S. Y. Khan, X. Jiao, 2019, PloS one.

Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways

Zhiwei Ma, X. Jiao, J. Hejtmancik, 2017, Scientific Reports.

Whole genome sequencing data for two individuals of Pakistani descent

Shaheen N. Khan, S. Riazuddin, S. Y. Khan, 2018, Scientific Data.

Reply to Liu et al.: Differential effects of chromosome 2p16.3 variants on glaucoma in African derived populations

J. Hoh, B. Nemesure, A. Hennis, 2010, Proceedings of the National Academy of Sciences.

Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at ZFHX1B and SNTB1 in Han Chinese and European populations

X. Jiao, J. Hejtmancik, Qingjiong Zhang, 2017, Molecular vision.

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

X. Jiao, J. Hejtmancik, Xueshan Xiao, 2012, Journal of Human Genetics.

Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

R. de Cabo, L. C. Pomatto, E. Duh, 2021, Investigative Ophthalmology and Visual Science.

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma

X. Jiao, J. Hejtmancik, Yihua Zhu, 2023, Journal of glaucoma.

The metabolism of fatty acids in human Bietti crystalline dystrophy.

M. Kaiser-Kupfer, W. Gahl, T. Markello, 2001, Investigative ophthalmology & visual science.

The EPHA2 gene is associated with cataracts linked to chromosome 1p

X. Jiao, J. Hejtmancik, T. Bennett, 2008, Molecular vision.