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Molecular Genetics & Genomic Medicine

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https://www.readbyqxmd.com/read/28116333/cln8-disease-caused-by-large-genomic-deletions
#1
Clare Beesley, Rita J Guerreiro, Jose T Bras, Ruth E Williams, Ana Lia Taratuto, Christin Eltze, Sara E Mole
BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting. RESULTS: We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in CLN8 on the other chromosome. CONCLUSION: Microarray analysis is recommended in any patient suspected of NCL who is apparently homozygous for a mutation that is not present in one of the parents or when the family has no known consanguinity...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116332/sherpas-share-genetic-variations-with-tibetans-for-high-altitude-adaptation
#2
Sushil Bhandari, Xiaoming Zhang, Chaoying Cui, Yangla, Lan Liu, Ouzhuluobu, Baimakangzhuo, Gonggalanzi, Caijuan Bai, Bianba, Yi Peng, Hui Zhang, Kun Xiang, Hong Shi, Shiming Liu, Gengdeng, Tianyi Wu, Xuebin Qi, Bing Su
BACKGROUND: Sherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. However, the genetic basis of their adaptation to high-altitude environments remains elusive. METHODS: We collected DNA samples of 582 Sherpas from Nepal and Tibetan Autonomous Region of China, and we measured their hemoglobin levels and degrees of blood oxygen saturation. We genotyped 29 EPAS1 SNPs, two EGLN1 SNPs and the TED polymorphism (3...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116331/a-comprehensive-global-genotype-phenotype-database-for-rare-diseases
#3
Daniel Trujillano, Gabriela-Elena Oprea, Yvonne Schmitz, Aida M Bertoli-Avella, Rami Abou Jamra, Arndt Rolfs
BACKGROUND: The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype-phenotype database focusing on rare diseases. METHODS: This database (CentoMD (®)) is a browser-based tool that enables access to a comprehensive, independently curated system utilizing stringent high-quality criteria and a quickly growing repository of genetic and human phenotype ontology (HPO)-based clinical information...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116330/identification-and-functional-analysis-of-c-422_423inst-a-novel-mutation-of-the-hnf1a-gene-in-a-patient-with-diabetes
#4
Jesús Miguel Magaña-Cerino, Juan P Luna-Arias, María Luisa Labra-Barrios, Bartolo Avendaño-Borromeo, Xavier Miguel Boldo-León, Mirian Carolina Martínez-López
BACKGROUND: HNF1A gene regulates liver-specific genes, and genes that have a role in glucose metabolism, transport, and secretion of insulin. HNF1A gene mutations are frequently associated with type 2 diabetes. HNF1A protein has three domains: the dimerization domain, the DNA-binding domain, and the trans-activation domain. Some mutations in the dimerization or DNA-binding domains have no influence on the normal allele, while others have dominant negative effects. The I27L, A98V, and S487N polymorphisms are common variants of the HNF1A gene; they have been found in T2D and non-diabetic subjects...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116329/cftr-founder-mutation-causes-protein-trafficking-defects-in-chinese-patients-with-cystic-fibrosis
#5
Gordon K C Leung, Dingge Ying, Christopher C Y Mak, Xin-Ying Chen, Weiyi Xu, Kit-San Yeung, Wai-Lap Wong, Yoyo W Y Chu, Gary T K Mok, Christy S K Chau, Jenna McLuskey, Winnie P T Ong, Huey-Yin Leong, Kelvin Y K Chan, Wanling Yang, Jeng-Haur Chen, Albert M Li, Pak C Sham, Yu-Lung Lau, Brian H Y Chung, So-Lun Lee
BACKGROUND: Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation. METHOD: Using our in-house next-generation sequencing (NGS) pipeline for childhood bronchiectasis, we identified disease-causing CFTR mutations in CF patients in Hong Kong. After identifying p.I1023R in multiple patients, haplotype analysis was performed with genome-wide microarray to ascertain the likelihood of this being a founder mutation...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#6
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E Heath, Pablo Lapunzina, Victor L Ruiz-Perez
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116327/constitutional-de-novo-and-postzygotic-mutations-in-isolated-cases-of-cerebral-cavernous-malformations
#7
Matthias Rath, Stefanie Spiegler, Neetika Nath, Konrad Schwefel, Nataliya Di Donato, Johannes Gerber, G Christoph Korenke, Yorck Hellenbroich, Ute Hehr, Stephanie Gross, Ulrich Sure, Barbara Zoll, Eberhard Gilberg, Lars Kaderali, Ute Felbor
BACKGROUND: Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and CCM3 genes remains unknown. METHODS: We here present a series of six trios with de novo mutations that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116326/hg19k-addressing-a-significant-lacuna-in-hg19-based-variant-calling
#8
Savita Karthikeyan, Pushpinder S Bawa, Subhashini Srinivasan
BACKGROUND: The hg19 assembly of the human genome is the most heavily annotated and most commonly used reference to make variant calls for individual genomes. Based on the phase 3 report of the 1000 genomes project (1000G), it is now well known that many positions in the hg19 genome represent minor alleles. Since commonly used variant call methods are developed under the assumption that hg19 reference harbors major alleles at all the ~3 billion positions, these methods mask the calls whenever an individual is homozygous to the minor allele at the respective positions...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116325/genetics-and-genomic-medicine-in-egypt-steady-pace
#9
Samia Ali Temtamy, Dalia Farouk Hussen
Genetics and Genomic Medicine in Egypt: steady pace.
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28116324/genetics-and-genomics-etiology-of-nonsyndromic-orofacial%C3%A2-clefts
#10
Wasiu L Adeyemo, Azeez Butali
Orofacial clefts (OFC) are complex birth defects. Studies using contemporary genomic techniques, bioinformatics, and statistical analyses have led to appreciable advances in identifying the causes of syndromic forms of clefts. This commentary gives an overview of the important cleft gene discoveries found using various genomic methods and tools.
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896289/how-who-and-when-preferences-for-delivery-of-genome-sequencing-results-among-women-diagnosed-with-breast-cancer-at-a-young-age
#11
Kimberly A Kaphingst, Jennifer Ivanovich, Ashley Elrick, Rebecca Dresser, Cindy Matsen, Melody S Goodman
BACKGROUND: The increasing use of genome sequencing with patients raises a critical communication challenge: return of secondary findings. While the issue of what sequencing results should be returned to patients has been examined, much less attention has been paid to developing strategies to return these results in ways that meet patients' needs and preferences. To address this, we investigated delivery preferences (i.e., who, how, when) for individual genome sequencing results among women diagnosed with breast cancer at age 40 or younger...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896288/ultrastructure-of-early-amelogenesis-in-wild-type-amelx-and-enam-mice-enamel-ribbon-initiation-on-dentin-mineral-and-ribbon-orientation-by-ameloblasts
#12
Charles E Smith, Yuanyuan Hu, Jan C-C Hu, James P Simmer
INTRODUCTION: Dental enamel is comprised of highly organized, oriented apatite crystals, but how they form is unclear. METHODS: We used focused ion beam (FIB) scanning electron microscopy (SEM) to investigate early enamel formation in 7-week-old incisors from wild-type, Amelx(-/-), and Enam(-/-) C56BL/6 mice. FIB surface imaging scans thicker samples so that the thin enamel ribbons do not pass as readily out of the plane of section, and generates serial images by a mill and view approach for computerized tomography...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896287/enamel-ribbons-surface-nodules-and-octacalcium-phosphate-in-c57bl-6-amelx-mice-and-amelx-lyonization
#13
Yuanyuan Hu, Charles E Smith, Zhonghou Cai, Lorenza A-J Donnelly, Jie Yang, Jan C-C Hu, James P Simmer
BACKGROUND: Amelogenin is required for normal enamel formation and is the most abundant protein in developing enamel. METHODS: Amelx(+/+), Amelx(+/-) , and Amelx(-/-) molars and incisors from C57BL/6 mice were characterized using RT-PCR, Western blotting, dissecting and light microscopy, immunohistochemistry (IHC), transmission electron microscopy (TEM), scanning electron microscopy (SEM), backscattered SEM (bSEM), nanohardness testing, and X-ray diffraction. RESULTS: No amelogenin protein was detected by Western blot analyses of enamel extracts from Amelx(-/-) mice...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#14
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896285/rare-variants-in-optic-disc-area-gene-card10-enriched-in-primary-open-angle-glaucoma
#15
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, Owen M Siggs, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Robert J Casson, John Landers, Richard Mills, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Kathryn P Burdon, Jamie E Craig
BACKGROUND: Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG. METHODS: Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896284/analyses-of-more-than-60-000-exomes-questions-the-role-of-numerous-genes-previously-associated-with-dilated-cardiomyopathy
#16
Nina Nouhravesh, Gustav Ahlberg, Jonas Ghouse, Charlotte Andreasen, Jesper H Svendsen, Stig Haunsø, Henning Bundgaard, Peter E Weeke, Morten S Olesen
BACKGROUND: Hundreds of genetic variants have been described as disease causing in dilated cardiomyopathy (DCM). Some of these associations are now being questioned. We aimed to identify the prevalence of previously DCM associated variants in the Exome Aggregation Consortium (ExAC), in order to identify potentially false-positive DCM variants. METHODS: Variants listed as DCM disease-causing variants in the Human Gene Mutation Database were extracted from ExAC. Pathogenicity predictions for these variants were mined from dbNSFP v 2...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896283/a-potential-founder-variant-in-carmil2-rltpr-in-three-norwegian-families-with-warts-molluscum-contagiosum-and-t-cell-dysfunction
#17
Hanne S Sorte, Liv T Osnes, Børre Fevang, Pål Aukrust, Hans C Erichsen, Paul H Backe, Tore G Abrahamsen, Ole B Kittang, Torstein Øverland, Shalini N Jhangiani, Donna M Muzny, Magnus D Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H C Akdemir, Richard A Gibbs, Olaug K Rødningen, Robert Lyle, James R Lupski, Asbjørg Stray-Pedersen
BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelming, disseminated and/or persistent, and presenting together with other immunological features, a primary immunodeficiency disease (PIDD) may be suspected. METHODS AND RESULTS: The four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#18
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896281/genetics-and-genomic-medicine-in-morocco-the-present-hope-can-make-the-future-bright
#19
Khadija Belhassan, Karim Ouldim, Abdel Aziz Sefiani
Genetics and genomic medicine in Morocco: the present hope can make the future bright.
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896280/genetic-hearing-loss-the-journey-of-discovery-to-destination-how-close-are-we-to-therapy
#20
Arti Pandya
No abstract text is available yet for this article.
November 2016: Molecular Genetics & Genomic Medicine
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