J. Fielding Hejtmancik
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View article: Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases
Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases Open
Background Copy Number Variants (CNVs) can alter disease susceptibility by gene deletion, duplication and other mechanisms. CNVs are implicated in neuropsychiatric diseases. However, their rarity or de novo nature impedes linkage analysis.…
View article: Remarkable composition shift of cone subtypes combined with changes on phototransduction due to cone mosaicism induced by ARR3 variants
Remarkable composition shift of cone subtypes combined with changes on phototransduction due to cone mosaicism induced by ARR3 variants Open
View article: Oxidative Stress in Genetic Cataract Formation
Oxidative Stress in Genetic Cataract Formation Open
Background: Cataracts are the leading cause of blindness worldwide, and age-related cataracts are the result of environmental insults that largely lead to oxidative stress imposed on a genetic background that determines susceptibility to t…
View article: Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma
Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma Open
Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal p…
View article: Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression Open
View article: Death associated protein like 1 acts as a novel tumor suppressor in melanoma by increasing the stability of P21 protein
Death associated protein like 1 acts as a novel tumor suppressor in melanoma by increasing the stability of P21 protein Open
View article: Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia Open
View article: Bietti’s crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials
Bietti’s crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials Open
Purpose To qualitatively and quantitatively characterise the genotypes and phenotypes of Bietti’s crystalline dystrophy (BCD) in a cohort of patients. Design Cross-sectional and observational study. Methods Clinically confirmed BCD patient…
View article: Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract
Human γS-Crystallin Mutation F10_Y11delinsLN in the First Greek Key Pair Destabilizes and Impairs Tight Packing Causing Cortical Lamellar Cataract Open
Aromatic residues forming tyrosine corners within Greek key motifs are critical for the folding, stability, and order of βγ-crystallins and thus lens transparency. To delineate how a double amino acid substitution in an N-terminal-domain t…
View article: The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts
The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts Open
The γ-crystallins are highly expressed structural lens proteins comprising four Greek key motifs arranged in two domains. Their globular structure and short-range spatial ordering are essential for lens transparency. Aromatic residues play…
View article: Unique Haplotypes in <i>OPN1LW</i> as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Unique Haplotypes in <i>OPN1LW</i> as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism Open
Based on the 68 families with unique variants in OPN1LW, our study provides firm evidence that the two different phenotypes (eoHM with or without colorblindness) are caused by two different classes of variants (partial splicing-effect hapl…
View article: The Genetic Confirmation and Clinical Characterization of <i>LOXL3</i>-Associated MYP28: A Common Type of Recessive Extreme High Myopia
The Genetic Confirmation and Clinical Characterization of <i>LOXL3</i>-Associated MYP28: A Common Type of Recessive Extreme High Myopia Open
Biallelic LOXL3 variants exclusively presenting in nine unrelated patients with eoHM provide firm evidence implicating MYP28, with an estimated prevalence of 7.3 × 10-3 in eoHM and of about 7.3 × 10-5 in the general population for LOXL3-as…
View article: SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation
SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation Open
The TXNIP/NLRP3 inflammasome pathway promotes HG-induced inflammation and HLEC pyroptosis, which is negatively regulated by SIRT1. This suggests viable strategies for treating diabetic cataract.
View article: CHARACTERIZATION OF MACULAR NEOVASCULARIZATION IN BIETTI CRYSTALLINE DYSTROPHY USING MULTIMODAL IMAGING MODALITIES
CHARACTERIZATION OF MACULAR NEOVASCULARIZATION IN BIETTI CRYSTALLINE DYSTROPHY USING MULTIMODAL IMAGING MODALITIES Open
Purpose: To characterize the clinical features of macular neovascularization (MNV) secondary to Bietti crystalline dystrophy. Methods: The imaging data of 157 eyes in 79 patients with Bietti crystalline dystrophy were retrospectively revie…
View article: Autophagy Requirements for Eye Lens Differentiation and Transparency
Autophagy Requirements for Eye Lens Differentiation and Transparency Open
Recent evidence points to autophagy as an essential cellular requirement for achieving the mature structure, homeostasis, and transparency of the lens. Collective evidence from multiple laboratories using chick, mouse, primate, and human m…
View article: Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts
Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts Open
This study was designed to identify the pathogenic variants in five Ukrainian families with autosomal dominant congenital cataracts. Cataracts can be defined broadly as any opacity of the crystalline lens. Lens development is orchestrated …
View article: A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury
A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury Open
Bietti crystalline corneo-retinal dystrophy (BCD) is an autosomal recessive inherited retinal dystrophy characterized by multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retin…
View article: Truncation mutations in MYRF underlie primary angle closure glaucoma
Truncation mutations in MYRF underlie primary angle closure glaucoma Open
View article: A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts Open
View article: A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype
A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype Open
We previously identified a homozygous G178R mutation in human ASRGL1 (hASRGL1) through whole-exome analysis responsible for early onset retinal degeneration (RD) in patients with cone–rod dystrophy. The mutant G178R ASRGL1 expressed in Cos…
View article: A Superfolder Green Fluorescent Protein-Based Biosensor Allows Monitoring of Chloride in the Endoplasmic Reticulum
A Superfolder Green Fluorescent Protein-Based Biosensor Allows Monitoring of Chloride in the Endoplasmic Reticulum Open
Though the concentration of chloride has been measured in the cytoplasm and in secretory granules of live cells, it cannot be measured within the endoplasmic reticulum (ER) due to poor fluorescence of existing biosensors. We developed a fl…
View article: The role of FYCO1-dependent autophagy in lens fiber cell differentiation
The role of FYCO1-dependent autophagy in lens fiber cell differentiation Open
FYCO1 (FYVE and coiled-coil domain containing 1) is an adaptor protein, expressed ubiquitously and required for microtubule-dependent, plus-end-directed transport of macroautophagic/autophagic vesicles. We have previously shown that loss-o…
View article: CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago Open
Background: A CLCC1 c. 75C > A (p.D25E) mutation has been associated with autosomal recessive pigmentosa in patients in and from Pakistan. CLCC1 is ubiquitously expressed, and knockout models of this gene in zebrafish and mice are letha…
View article: Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation Open
View article: Retinal Development and Pathophysiology in Kcnj13 Knockout Mice
Retinal Development and Pathophysiology in Kcnj13 Knockout Mice Open
Purpose: We constructed and characterized knockout and conditional knockout mice for KCNJ13, encoding the inwardly rectifying K + channel of the Kir superfamily Kir7.1, mutations in which cause both Snowflake Vitreoretinal Degeneration (SV…
View article: The role of FYCO1-dependent autophagy in lens fiber cell differentiation
The role of FYCO1-dependent autophagy in lens fiber cell differentiation Open
FYCO1 (FYVE and coiled-coil domain containing 1) is an adaptor protein, expressed ubiquitously and required for microtubule-dependent, plus-end-directed transport of macroautophagic/autophagic vesicles. We have previously shown that loss-o…
View article: Additional file 12 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Additional file 12 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation Open
Additional file 12: Table S8. Differentially methylated mCG regions that are at least partially contained within open chromatin regions at A promoters and genebodies of differentially expressed genes, or B only promoters of differentially …
View article: Additional file 9 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Additional file 9 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation Open
Additional file 9: Table S5. Average change in mCG methylation level for all differentially methylated mCG regions mapped to A–D the promoters and genebodies of differentially expressed genes, or E–H only the promoters of differentially ex…
View article: Additional file 5 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Additional file 5 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation Open
Additional file 5: Table S1. Proportion of methylated cytosines that are mCG, mCHG, mCHH in each sample of lens epithelial and fiber cells.
View article: Additional file 6 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Additional file 6 of Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation Open
Additional file 6: Table S2. Differentially methylated mCG regions between lens epithelial and fiber cells.