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JOURNAL ARTICLE
Caroline Kinnear, Abdelrahman Said, Guoliang Meng, Yimu Zhao, Erika Y Wang, Naimeh Rafatian, Neha Parmar, Wei Wei, Filio Billia, Craig A Simmons, Milica Radisic, James Ellis, Seema Mital
Pathogenic variants in MYH7 and MYBPC3 account for the majority of hypertrophic cardiomyopathy (HCM). Targeted drugs like myosin ATPase inhibitors have not been evaluated in children. We generate patient and variant-corrected iPSC-cardiomyocytes (CMs) from pediatric HCM patients harboring single variants in MYH7 (V606M; R453C), MYBPC3 (G148R) or digenic variants (MYBPC3 P955fs, TNNI3 A157V). We also generate CMs harboring MYBPC3 mono- and biallelic variants using CRISPR editing of a healthy control. Compared with isogenic and healthy controls, variant-positive CMs show sarcomere disorganization, higher contractility, calcium transients, and ATPase activity...
April 16, 2024: Cell reports medicine
#2
JOURNAL ARTICLE
Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizzo
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment...
April 16, 2024: Neurogenetics
#3
JOURNAL ARTICLE
Barbara Gravel, Alexandre Renaux, Sofia Papadimitriou, Guillaume Smits, Ann Nowé, Tom Lenaerts
MOTIVATION: Whole exome sequencing (WES) has emerged as a powerful tool for genetic research, enabling the collection of a tremendous amount of data about human genetic variation. However, properly identifying which variants are causative of a genetic disease remains an important challenge, often due to the number of variants that need to be screened. Expanding the screening to combinations of variants in two or more genes, as would be required under the oligogenic inheritance model, simply blows this problem out of proportion...
April 11, 2024: Bioinformatics
#4
JOURNAL ARTICLE
Alexandra Poch, Michael P Dougherty, Robert A Roman, Lynn Chorich, Zoe Hawkins, Soo-Hyun Kim, Hyung-Goo Kim, Lawrence C Layman
BACKGROUND: Hypogonadotropic hypogonadism (HH) is due to impaired gonadotropin releasing hormone (GnRH) action resulting in absent puberty and infertility. At least 44 genes have been identified to possess genetic variants in 40-50% of nHH/KS, and 2-20% have presumed digenic disease, but not all variants have been characterized in vitro. HYPOTHESIS: The prevalence of pathogenic (P)/likely pathogenic (LP) variants in monogenic and digenic nHH/KS is lower than reported...
April 7, 2024: Molecular and Cellular Endocrinology
#5
REVIEW
Jiahui Zhang, Panfeng Tao, Natalie T Deuitch, Xiaomin Yu, Ivona Askentijevich, Qing Zhou
The ubiquitin-proteasome system (UPS) has a critical role in post-translational protein modification that is essential for the maintenance of all cellular functions, including immune responses. The proteasome complex is ubiquitously expressed and is responsible for degradation of short-lived structurally abnormal, misfolded and not-needed proteins that are targeted for degradation via ubiquitin conjugation. Over the last 14 years, an increasing number of human diseases have been linked to pathogenic variants in proteasome subunits and UPS regulators...
April 5, 2024: Journal of Clinical Immunology
#6
Dipti Rao, Rutger Maas, Marlies Cornelissen, Jack Wetzels, Michel van Geel
Alport syndrome (AS) is a hereditary kidney disorder of type IV collagen caused by pathogenic variants in the COL4A3, COL4A4 and COL4A5 genes. Previously several cases of digenic AS, caused by two pathogenic variants in two of the three COL4A genes, have been reported. Patients with digenic AS may present with a more severe phenotype compared to patients with single variants, depending on the percentage affected type IV trimeric collagen chain. We report a newly discovered case of trigenic AS. A 52-year-old female presented with hematuria at the age of 24 years and developed hypertension by the age of 30...
March 28, 2024: Nephron
#7
JOURNAL ARTICLE
Constantina Koutsofti, Marios Ioannides, Christiana Polydorou, Gregory Papagregoriou, Apostolos Malatras, George Michael, Irene Hadjiioannou, Stylianos Pieri, Eleni M Loizidou, Christos Eftychiou, Elias Papasavvas, Theodoros Christophides, Anna Alkelai, Manav Kapoor, Alan R Shuldiner, Panayiotis Avraamides, Constantinos Deltas
Inherited cardiomyopathies represent a highly heterogeneous group of cardiac diseases. DNA variants in genes expressed in cardiomyocytes cause a diverse spectrum of cardiomyopathies, ultimately leading to heart failure, arrythmias, and sudden cardiac death. We applied massive parallel DNA sequencing using a 72-gene panel for studying inherited cardiomyopathies. We report on variants in 25 families, where pathogenicity was predicted by different computational approaches, databases, and an in-house filtering analysis...
February 28, 2024: Genes
#8
JOURNAL ARTICLE
Yihe Liu, Juan Liu, Yuqi Chen, Ran Mo, Ruiyu Xiang, Zhongya Song, Yong Yang, Zhiming Chen
No abstract text is available yet for this article.
March 26, 2024: British Journal of Dermatology
#9
Mariana Correia Marques, Danielle Rubin, Emily Shuldiner, Mallika Datta, Elizabeth Schmitz, Gustavo Gutierrez Cruz, Andrew Patt, Elizabeth Bennett, Alexei Grom, Dirk Foell, Marco Gattorno, John Bohnsack, Rae S M Yeung, Sampath Prahalad, Elizabeth Mellins, Jordi Anton, Claudio Arnaldo Len, Sheila Oliveira, Patricia Woo, Seza Ozen, Zuoming Deng, Michael J Ombrello
OBJECTIVE: To evaluate whether there is an enrichment of rare variants in familial hemophagocytic lymphohistiocytosis (HLH) genes and systemic juvenile idiopathic arthritis (sJIA) with or without macrophage activation syndrome (MAS). METHODS: Targeted sequencing of HLH genes ( LYST, PRF1, RAB27A, STX11, STXBP2, UNC13D ) was performed in sJIA subjects from an established cohort. Sequence data from control subjects were obtained in silico (dbGaP:phs000280.v8.p2). Rare variant association testing (RVT) was performed with sequence kernel association test (SKAT) package...
March 15, 2024: medRxiv
#10
REVIEW
Digen Ruan, Zhuangzhuang Cui, Jiajia Fan, Dazhuang Wang, Yiying Wu, Xiaodi Ren
In response to societal developments and the growing demand for high-energy-density battery systems, alkali metal batteries (AMBs) have emerged as promising candidates for next-generation energy storage. Despite their high theoretical specific capacity and output voltage, AMBs face critical challenges related to high reactivity with electrolytes and unstable interphases. This review, from the perspective of electrolytes, analyzes AMB failure mechanisms, including interfacial side reactions, active materials loss, and metal dendrite growth...
March 20, 2024: Chemical Science
#11
JOURNAL ARTICLE
Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch
Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a subacute necrotizing encephalomyelopathy and characterised by bilateral basal ganglia and/or brainstem lesions. LSS is associated with variants in several mitochondrial DNA (mtDNA) genes and more than 100 nuclear genes, most often related to mitochondrial complex I (CI) dysfunction. Rarely, LSS has been reported in association with primary Leber hereditary optic neuropathy (LHON) variants of the mtDNA, coding for CI subunits (m...
March 13, 2024: Brain
#12
JOURNAL ARTICLE
E V Shabanova, A V Agafonov, O V Dorogina
A hybridological study of biotypes of species close to Elymus caninus: E. prokudinii, E. viridiglumis, E. goloskokovii, as well as a number of morphologically deviant biotypes in Russia and Kazakhstan, was carried out. The objectives were to study the levels of reproductive relationships and the degree of integration of the species E. goloskokovii, E. prokudinii, and E. viridiglumis into the E. caninus complex. Our estimates of the seed fertility of natural parental biotypes were within 60-90 %. Among the combinations of crossing in F1, the highest seed setting was found in the hybrids formed by parental pairs from close habitats, regardless of the taxonomic rank of biotypes...
February 2024: Vavilovskii Zhurnal Genetiki i Selektsii
#13
JOURNAL ARTICLE
Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi
Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and mental development was favorable. Color fundus photography revealed severe retinal atrophy in both eyes...
March 11, 2024: Pediatric Nephrology
#14
JOURNAL ARTICLE
Zhuangzhuang Cui, Zhuangzhuang Jia, Digen Ruan, Qingshun Nian, Jiajia Fan, Shunqiang Chen, Zixu He, Dazhuang Wang, Jinyu Jiang, Jun Ma, Xing Ou, Shuhong Jiao, Qingsong Wang, Xiaodi Ren
Constraining the electrochemical reactivity of free solvent molecules is pivotal for developing high-voltage lithium metal batteries, especially for ether solvents with high Li metal compatibility but low oxidation stability ( <4.0 V vs Li+ /Li). The typical high concentration electrolyte approach relies on nearly saturated Li+ coordination to ether molecules, which is confronted with severe side reactions under high voltages ( >4.4 V) and extensive exothermic reactions between Li metal and reactive anions...
March 6, 2024: Nature Communications
#15
JOURNAL ARTICLE
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model...
March 1, 2024: Nature Genetics
#16
REVIEW
G Nicolas
Research on Alzheimer disease (AD) genetics has provided critical advances to the knowledge of AD pathophysiological mechanisms. The etiology of AD can be divided into monogenic (autosomal dominant inheritance) and complex (multifactorial determinism). In monogenic AD, recent advances mainly concern mutation-associated mechanisms, presymptomatic clinical studies, and the search for modifiers of ages of onset that are still ongoing. In complex AD, genetic factors can be further categorized into three classes: (i) the APOE-ɛ4 and ɛ2 common alleles that represent a category by themselves as they are both common and with a strong impact on AD risk; (ii) common variants with a modest effect, identified in genome-wide association studies (GWAS); and (iii) rare variants with a moderate-to-strong effect, identified in case-control sequencing studies...
February 29, 2024: Revue Neurologique
#17
JOURNAL ARTICLE
Leonardo Franz, Alessandro Incognito, Chiara Gallo, Licia Turolla, Elisa Scquizzato, Roberta Cenedese, Alessandro Matarazzo, Daniel Savegnago, Paolo Zanatta, Elisabetta Genovese, Cosimo de Filippis, Gino Marioni
GJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants. The aim of this study was to investigate the clinical and audiological features of a cohort of subjects with different GJB2/GJB6 gene mutation profiles from a tertiary referral center in Northeastern Italy. We considered 57 patients with GJB2/GJB6 mutations presenting with congenital, non-syndromic SNHL, mainly coming from the Veneto region (Italy)...
February 3, 2024: Children
#18
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
No abstract text is available yet for this article.
February 24, 2024: Cerebellum
#19
JOURNAL ARTICLE
Lili Liu, Juanjuan Chen, Guogao Zhang, Zhijian Lin, Di Chen, Jun Hu
Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical manifestations of SCATBP/STUB1 include not only ataxia but also obvious cognitive and behavioral impairment. Here, we describe a Chinese family with SCATBP/STUB1 and performed a literature search for similar cases. We identified a Chinese family with SCATBP/STUB1 and compare our clinical findings with other cases described in the literature so far...
February 12, 2024: Cerebellum
#20
JOURNAL ARTICLE
Yunhao Liu, Zhuolin Du, Ying Li, Shaoping Lu, Shan Tang, Liang Guo
UNLABELLED: With the increasing public attention to the health benefit of polyunsaturated fatty acids (PUFAs) and demand for linolenic acid (C18:3), it is of great significance to increase the C18:3 content in our meal. As an oil crop with high content of C18:3, Camelina sativa has three homologous copies of FAD2 and three homologous copies FAD3 . In this study, we seed-specifically overexpressed two Camelina sativa fatty acid desaturase genes, CsFAD2 and CsFAD3 , in rapeseed cultivar Zhongshuang 9...
February 2024: Molecular Breeding
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