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https://www.readbyqxmd.com/read/28642546/slc4a11-depletion-impairs-nrf2-mediated-antioxidant-signaling-and-increases-reactive-oxygen-species-in-human-corneal-endothelial-cells-during-oxidative-stress
#1
Sanjukta Guha, Sunita Chaurasia, Charanya Ramachandran, Sanhita Roy
Corneal endothelial dystrophy is a progressive disease with gradual loss of vision and characterized by degeneration and dysfunction of corneal endothelial cells. Mutations in SLC4A11, a Na(+) dependent OH(-) transporter, cause congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy (FECD), the two most common forms of endothelial degeneration. Along with genetic factors, oxidative stress plays a role in pathogenesis of several corneal diseases. In this study we looked into the role of SLC4A11 in antioxidant stress response in human corneal endothelial cells (HCEnC)...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#2
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#3
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28631898/mass-spectrometry-based-protein-analytics-to-unravel-the-tissue-pathophysiology-in-duchenne-muscular-dystrophy
#4
Stephanie J Carr, René P Zahedi, Hanns Lochmüller, Andreas Roos
Duchenne muscular dystrophy (DMD) is a genetic muscle wasting condition with limited treatment options available and is caused by the lack of Dystrophin. However, pathophysiology of different tissues is variable showing different histological and molecular signatures. Recently, a number of studies have employed gel-free proteomic approaches to unveil the molecular pathophysiology in terms of tissue-specific proteome changes in dystrophin-deficiency. We analysed studies in models of dystrophin-deficiency and patients both from the published literature...
June 20, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28630007/rna-localization-making-its-way-to-the-center-stage
#5
REVIEW
Ashley Chin, Eric Lécuyer
Cells are highly organized entities that rely on intricate addressing mechanisms to sort their constituent molecules to precise subcellular locations. These processes are crucial for cells to maintain their proper organization and carry out specialized functions in the body, while genetic perturbations that clog up these addressing systems can contribute to disease aetiology. The trafficking of RNA molecules represents an important layer in the control of cellular organization, a process that is both highly prevalent and for which features of the regulatory machineries have been deeply conserved evolutionarily...
June 16, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28629822/structure-based-designed-nano-dysferlin-significantly-improves-dysferlinopathy-in-bla-j-mice
#6
Telmo Llanga, Nadia Nagy, Laura Conatser, Catherine Dial, R Bryan Sutton, Matthew L Hirsch
Dysferlinopathy is an autosomal recessive muscular dystrophy characterized by the progressive loss of motility that is caused by mutations throughout the DYSF gene. There are currently no approved therapies that ameliorate or reverse dysferlinopathy. Gene delivery using adeno-associated vectors (AAVs) is a leading therapeutic strategy for genetic diseases; however, the large size of dysferlin cDNA (6.2 kB) precludes packaging into a single AAV capsid. Therefore, using 3D structural modeling and hypothesizing dysferlin C2 domain redundancy, a 30% smaller, dysferlin-like molecule amenable to single AAV vector packaging was engineered (termed Nano-Dysferlin)...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#7
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28624958/whole-exome-sequencing-identified-compound-heterozygous-variants-in-mmks-in-a-chinese-pedigree-with-bardet-biedl-syndrome
#8
Zhan Qi, Ying Shen, Qian Fu, Wei Li, Wei Yang, Wenshan Xu, Ping Chu, Yaxin Zhang, Hui Wang
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants (c...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624206/crispr-cas9-mediated-genome-editing-corrects-dystrophin-mutation-in-skeletal-muscle-stem-cells-in-a-mouse-model-of-muscle-dystrophy
#9
Pei Zhu, Furen Wu, Jeffrey Mosenson, Hongmei Zhang, Tong-Chuan He, Wen-Shu Wu
Muscle stem cells (MuSCs) hold great therapeutic potential for muscle genetic disorders, such as Duchenne muscular dystrophy (DMD). The CRISP/Cas9-based genome editing is a promising technology for correcting genetic alterations in mutant genes. In this study, we used fibrin-gel culture system to selectively expand MuSCs from crude skeletal muscle cells of mdx mice, a mouse model of DMD. By CRISP/Cas9-based genome editing, we corrected the dystrophin mutation in expanded MuSCs and restored the skeletal muscle dystrophin expression upon transplantation in mdx mice...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28622884/the-effect-of-caloric-restriction-on-the-forelimb-skeletal-muscle-fibers-of-the-hypertrophic-myostatin-null-mice
#10
Mohamed I Elashry, Antonios Matsakas, Sabine Wenisch, Stefan Arnhold, Ketan Patel
Skeletal muscle mass loss has a broad impact on body performance and physical activity. Muscle wasting occurs due to genetic mutation as in muscular dystrophy, age-related muscle loss (sarcopenia) as well as in chronic wasting disorders as in cancer cachexia. Food restriction reduces muscle mass underpinned by increased muscle protein break down. However the influence of dietary restriction on the morphometry and phenotype of forelimb muscles in a genetically modified myostatin null mice are not fully characterized...
June 13, 2017: Acta Histochemica
https://www.readbyqxmd.com/read/28621010/diversity-of-renal-phenotypes-in-patients-with-wdr19-mutations-two-case-reports
#11
Takahisa Yoshikawa, Koichi Kamei, Hiroko Nagata, Ken Saida, Mai Sato, Masao Ogura, Shuichi Ito, Osamu Miyazaki, Maki Urushihara, Shuji Kondo, Noriko Sugawara, Kiyonobu Ishizuka, Yuko Hamasaki, Seiichiro Shishido, Naoya Morisada, Kazumoto Iijima, Michio Nagata, Takako Yoshioka, Kentaro Ogata, Kenji Ishikura
WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants with Sensenbrenner syndrome caused by WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations...
July 2017: Nephrology
https://www.readbyqxmd.com/read/28617590/structure-and-dynamics-of-rna-repeat-expansions-that-cause-huntington-s-disease-and-myotonic-dystrophy-type-1
#12
Jonathan L Chen, Damian M VanEtten, Matthew A Fountain, Ilyas Yildirim, Matthew D Disney
RNA repeat expansions cause a host of incurable, genetically-defined diseases. The most common class of RNA repeats are trinucleotide repeats. These long, repeating transcripts fold into hairpins containing 1 × 1 internal loops that can mediate disease via a variety of mechanism(s) in which RNA is the central player. Two of these disorders are Huntington's disease and myotonic dystrophy type 1, which are caused by r(CAG) and r(CUG) repeats, respectively. We report the structures of two RNA constructs containing three copies of a r(CAG) [r(3×CAG)] or r(CUG) [r(3×CUG)] motif that were modeled with nuclear magnetic resonance spectroscopy and simulated annealing with restrained molecular dynamics...
June 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/28616376/genome-editing-and-muscle-stem-cells-as-a-therapeutic-tool-for-muscular-dystrophies
#13
REVIEW
Veronica Pini, Jennifer E Morgan, Francesco Muntoni, Helen C O'Neill
PURPOSE OF REVIEW: Muscular dystrophies are a group of severe degenerative disorders characterized by muscle fiber degeneration and death. Therapies designed to restore muscle homeostasis and to replace dying fibers are being experimented, but none of those in clinical trials are suitable to permanently address individual gene mutation. The purpose of this review is to discuss genome editing tools such as CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated), which enable direct sequence alteration and could potentially be adopted to correct the genetic defect leading to muscle impairment...
2017: Current Stem Cell Reports
https://www.readbyqxmd.com/read/28615891/limb-girdle-muscular-dystrophies-in-india-a-review
#14
REVIEW
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India...
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28612290/deficiency-of-tyrobp-an-adapter-protein-for-trem2-and-cr3-receptors-is-neuroprotective-in-a-mouse-model-of-early-alzheimer-s-pathology
#15
Jean-Vianney Haure-Mirande, Mickael Audrain, Tomas Fanutza, Soong Ho Kim, William L Klein, Charles Glabe, Ben Readhead, Joel T Dudley, Robert D Blitzer, Minghui Wang, Bin Zhang, Eric E Schadt, Sam Gandy, Michelle E Ehrlich
Conventional genetic approaches and computational strategies have converged on immune-inflammatory pathways as key events in the pathogenesis of late onset sporadic Alzheimer's disease (LOAD). Mutations and/or differential expression of microglial specific receptors such as TREM2, CD33, and CR3 have been associated with strong increased risk for developing Alzheimer's disease (AD). DAP12 (DNAX-activating protein 12)/TYROBP, a molecule localized to microglia, is a direct partner/adapter for TREM2, CD33, and CR3...
June 13, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28611652/a-novel-abca4-mutation-associated-with-a-late-onset-stargardt-disease-phenotype-a-hypomorphic-allele
#16
Cindy S Kaway, Madeleine K M Adams, Kevin Sean Jenkins, Christopher J Layton
BACKGROUND: Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the disease is important for understanding the mechanisms of visual loss and for planning future therapeutic approaches...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28611030/association-between-mutation-size-and-cardiac-involvement-in-myotonic-dystrophy-type-1-an-analysis-of-the-dm1-heart-registry
#17
Caroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Hélène Radvanyi-Hoffman, Pauline Arnaud, Denis Furling, Arnaud Lazarus, Guillaume Bassez, Anthony Béhin, Abdallah Fayssoil, Pascal Laforêt, Tanya Stojkovic, Bruno Eymard, Denis Duboc
BACKGROUND: In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS: We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dystrophy Type 1-Heart Registry between January 2000 and December 2015...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28607562/cellular-reprogramming-genome-editing-and-alternative-crispr-cas9-technologies-for-precise-gene-therapy-of-duchenne-muscular-dystrophy
#18
REVIEW
Peter Gee, Huaigeng Xu, Akitsu Hotta
In the past decade, the development of two innovative technologies, namely, induced pluripotent stem cells (iPSCs) and the CRISPR Cas9 system, has enabled researchers to model diseases derived from patient cells and precisely edit DNA sequences of interest, respectively. In particular, Duchenne muscular dystrophy (DMD) has been an exemplary monogenic disease model for combining these technologies to demonstrate that genome editing can correct genetic mutations in DMD patient-derived iPSCs. DMD is an X-linked genetic disorder caused by mutations that disrupt the open reading frame of the dystrophin gene, which plays a critical role in stabilizing muscle cells during contraction and relaxation...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28595270/spp1-genotype-and-glucocorticoid-treatment-modify-osteopontin-expression-in-duchenne-muscular-dystrophy-cells
#19
Sara Vianello, Boris Pantic, Aurora Fusto, Luca Bello, Eva Galletta, Doriana Borgia, Bruno F Gavassini, Claudio Semplicini, Gianni Sorarù, Libero Vitiello, Elena Pegoraro
Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence suggesting that it modifies response to glucocorticoid treatment. The effect of the glucocorticoid deflazacort on SPP1 mRNA and protein expression was investigated in DMD primary human myoblasts and differentiated myotubes with defined rs28357094 genotype (TT versus TG)...
June 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28592916/a-reduction-in-selenoprotein-s-amplifies-the-inflammatory-profile-of-fast-twitch-skeletal-muscle-in-the-mdx-dystrophic-mouse
#20
Craig Robert Wright, Giselle Larissa Allsopp, Alex Bernard Addinsall, Natasha Lee McRae, Sofianos Andrikopoulos, Nicole Stupka
Excessive inflammation is a hallmark of muscle myopathies, including Duchenne muscular dystrophy (DMD). There is interest in characterising novel genes that regulate inflammation due to their potential to modify disease progression. Gene polymorphisms in Selenoprotein S (Seps1) are associated with elevated proinflammatory cytokines, and in vitro SEPS1 is protective against inflammatory stress. Given that SEPS1 is highly expressed in skeletal muscle, we investigated whether the genetic reduction of Seps1 exacerbated inflammation in the mdx mouse...
2017: Mediators of Inflammation
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