PRPH2 gene mutations are frequently found in inherited retinal dystrophies (IRD) and are associated with a wide spectrum of clinical phenotypes. We studied 28 subjects affected by IRD carrying pathogenic PRPH2 mutations, belonging to 11 unrelated fam...
Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families wi...
PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogen...
This work describes the application of NGS for molecular diagnosis of RP in a family with a history of severe hypovision. In particular, the proband received a clinical diagnosis of RP on the basis of medical, instrumental examinations and his family...
Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and phenotypic heterogeneity. In this study, variants in PRPH2 were selected from in-house exome sequencing data, and all reported PRPH2 variants were evaluated w...
Objective: The clinical presentation of inherited retinal dystrophies associated with pathogenic variants in PRPH2 is highly variable. Here we present bilateral sector macular dystrophy as a novel clinical phenotype. Methods and analysis: Ophthalmolo...
Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We...
Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity. This study combines genomic, clinical, and instrumental data, inc...
Purpose: To investigate genotype–phenotype correlations in PRPH2-retinopathies in a cohort of 36 patients from the Oxford Eye Hospital and report on novel pathogenic variants. Methods: Clinical data, including best corrected visual acuities (BC...
Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish a correct clinical diagnosis. The objective of this study was to characterize new clin...
Background: Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family cons...
The large number of inherited retinal disease genes (IRD), including the photopigment rhodopsin and the photoreceptor outer segment (OS) structural component peripherin 2 (PRPH2), has prompted interest in identifying common cellular mechanisms involv...
(1) Background: Recessive Stargardt disease (STGD1) and multifocal pattern dystrophy simulating Stargardt disease (“pseudo-Stargardt pattern dystrophy”, PSPD) share phenotypic similitudes, leading to a difficult clinical diagnosis. Our ai...
The aim of the present study was to analyze the relationship of age-related macular degeneration (AMD) progression with clinical characteristics, demographic, and environmental risk factors that would affect disease development. In addition, the infl...
Peripherin 2 (Prph2) is a photoreceptor-specific tetraspanin protein present in the outer segment (OS) rims of rod and cone photoreceptors. It shares many common features with other tetraspanins, including a large intradiscal loop which contains seve...
The purpose of this study was to develop a flexible, cost-efficient, next-generation sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction (PCR) amplicons of up to 20 kb in size were designed to amplify entire genomic re...
Molecular mechanisms underlying breast cancer (BC) progression are complex and remain unclear. In this study, we used bioinformatic tools to identify genes associated with tumor progression mechanisms and novel therapeutic targets in BC. We identifie...
The Tarim Basin, a significant region of coal-derived gas generation in China, has widely dispersed coal measure source rocks, especially in the Kuqa Depression. The typical coal measure strata from the Kuqa River and Kapushaliang River sections in t...
We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T>C and c.4496T>C being novel. The dominan...
A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD pati...
Eocene coal-bearing source rocks of the Pinghu Formation from the W-3 well in the western margin of the Xihu Sag, East China Sea Shelf Basin were analyzed using Rock-Eval pyrolysis and gas chromatography–mass spectrometry to investigate the samples’...
Two novel cobalt diphenylphosphine complexes were synthesized by reacting cobalt(II) chloride with tert-butyl(diphenyl)phosphine (PtBuPh2) and (S)-(+)neomenthyldiphenylphosphine [(S)-NMDPP]. The crystal structure of the former was determined by singl...
Late Permian paleoenvironmental instability and recurrent biotic crises coincided with enhanced marine organic-carbon burial, yet ocean-circulation dynamics have remained underappreciated as a key driver. In particular, for the Wuchiaping Formation a...
This study aims to resolve the genetic origin of crude oils accumulated in the D Subsag and to assess the potential cross-sag hydrocarbon migration from the adjacent Haizhong Sag. The D Subsag, situated on the western margin of the Weixinan Sag in th...
The choice of the solvent to use in the Soxhlet extraction process dramatically affects the extraction yield. In this work, ten hydrocarbon source rocks were extracted using different solvents, and the chemical compositions of their products were ana...
This study systematically analyzes the dark shale samples of the Silurian Qusaiba Formation from the Tayma Quadrangle outcrop section in the northwest of Saudi Arabia, and assesses the source and nature of its organic matter and the main sedimentary...
The method of quantitative fundus autofluorescence (qAF) can be used to assess the levels of bisretinoids in retinal pigment epithelium (RPE) cells so as to aid the interpretation and management of a variety of retinal conditions. In this review, we...
Lipid biomarkers play an important role in defining oil-source rock correlations. A fundamental assumption is that composition (or ratios) of biomarkers in oil is not significantly different from that in bitumen in the source rock. In order to compar...
Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors. Cis-acting expression quantitative trait...
The Zonguldak coal basin is the area with the most important hard coal reserves in Turkey. This study focuses on coal samples extracted from three seams of the Kozlu Formation, specifically from the Kozlu underground mine, to assess the coals’...
In this study, Kerogen conversion and oil production laboratory modeling results in Bazhenov formation source rock samples (Western Siberia, Russia) are presented. Two samples from one well with a similar composition and immature type II kerogen, whi...
(1) Background: Retinitis pigmentosa (RP) is characterized by progressive photoreceptor death. A Prph2Rd2 or an rds mouse is an RP model that closely reflects human RP. The objective of this study was to investigate the relationship of rod and cone d...
Coal and organic-rich shale in the Yan’an Formation in the southwestern margin of the Ordos Basin are widely developed, which is an important fact for oil and gas exploration in China that has been widely explored for a long time. In this paper...
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated...
Novel allyl cobalt complexes, i.e., (η3-C4H7)(η4-C4H6)Co(PCyPh2) (1), (η3-C4H7)(η4-C4H6)Co(PMePh2) (2) and (η3-C5H9)(η4-C5H8)Co(PMePh2) (3), were synthesized by reacting CoCl2(PRPh2)2 (R = methyl, cyclohexyl) with 1,3-butadiene or isoprene in presenc...
Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalitie...
This study investigates the Lower Cretaceous Madongshan Formation in the Liupanshan Basin, a classic saline lacustrine succession, to elucidate the key mechanisms for high-quality source rock development. An integrated approach combining organic geoc...
To evaluate the organic geochemical characteristics, source-rock quality, and remaining hydrocarbon potential of the Lin 1–Lin 2 source rocks in the Xinglong structural belt, Hetao Basin, 20 samples from eight wells were analyzed using TOC, roc...
The crude oils from the reservoirs of Mela-01 and Mela-04 wells located in the Kohat Basin, Pakistan, were geochemically analyzed to evaluate the origin, depositional conditions, and thermal maturity of the rock units and possible facies from which t...
Saturated hydrocarbons are widely used in the valuation of source rocks and oils, but the applicability of related parameters has received less attention. Based on the thermal simulation experiments on Mesozoic source rocks in the Yingen-Ejinaqi Basi...
A total of 21 samples were selected from a total of Jurassic coal-measure source rocks in the northern structural belt of the Kuqa Depression, in the Tarim Basin. By using a carbon-sulfur content analyzer, Rock Eval 7 rock pyrology instrument and gas...
The Qingshankou Formation shales in the southeastern uplift of the Songliao Basin provide an ideal archive for constraining the controls of paleoenvironment on organic matter enrichment. Taking the shale succession at the Niaohexiang section of Binxi...
Methyltrimethyltridecylchromans (MTTCs), a class of oxygen-containing aromatic derivatives, have been used as indicators of paleosalinity in source rocks and crude oils. However, the reliability of these compounds as indicators in mature organic matt...
The lower and middle Carboniferous shale sequences are one of the important potential hydrocarbon source rocks in the piedmont of the southwestern Tarim Basin, China (PSTB). Rock samples were collected from the lower and middle Carboniferous formatio...
This study focused on Middle Permian Lucaogou Formation saline lake source rocks, utilizing a combination of biomarkers and hydrocarbon generation thermal simulation to analyze their biological compositions, depositional environments, and hydrocarbon...
A quantitative and qualitative assessment using molecular markers derived from compound-specific indices for indicating groundwater impacted by petroleum spills in an oil field was recently undertaken and demonstrated serious contamination, with both...
The Dongying Depression (Bohai Bay Basin, eastern China) was widely filled with evaporite (anhydrite and halite) layers during the Paleogene period, especially the middle of the fourth member of the Shahejie Formation (Es4). Most evaporite layers are...
Background: Leber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA...
The Eocene middle number of the Liushagang Formation (LS2) of the Weixinan Sag, Beibuwan Basin, characterized by a thick succession of excellent quality source rocks, is composed of lacustrine organic-rich shales, mudstones, and shales (mudstones/sha...
Several billion-ton Neogene oil fields have been successfully discovered in the middle Huanghekou sag over the past few years. However, the source of the crude oil needs to be clarified, and the relevant oil-source correlation was less carried out. S...
of 2