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American Journal of Human Genetics

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https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#1
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28318499/loss-of-function-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita
#2
Shifeng Xue, Jérôme Maluenda, Florent Marguet, Mohammad Shboul, Loïc Quevarec, Carine Bonnard, Alvin Yu Jin Ng, Sumanty Tohari, Thong Teck Tan, Mung Kei Kong, Kristin G Monaghan, Megan T Cho, Carly E Siskind, Jacinda B Sampson, Carolina Tesi Rocha, Fawaz Alkazaleh, Marie Gonzales, Luc Rigonnot, Sandra Whalen, Marta Gut, Ivo Gut, Martine Bucourt, Byrappa Venkatesh, Annie Laquerrière, Bruno Reversade, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons...
March 8, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28285768/dynamic-role-of-trans-regulation-of-gene-expression-in-relation-to-complex-traits
#3
Chen Yao, Roby Joehanes, Andrew D Johnson, Tianxiao Huan, Chunyu Liu, Jane E Freedman, Peter J Munson, David E Hill, Marc Vidal, Daniel Levy
Identifying causal genetic variants and understanding their mechanisms of effect on traits remains a challenge in genome-wide association studies (GWASs). In particular, how genetic variants (i.e., trans-eQTLs) affect expression of remote genes (i.e., trans-eGenes) remains unknown. We hypothesized that some trans-eQTLs regulate expression of distant genes by altering the expression of nearby genes (cis-eGenes). Using published GWAS datasets with 39,165 single-nucleotide polymorphisms (SNPs) associated with 1,960 traits, we explored whole blood gene expression associations of trait-associated SNPs in 5,257 individuals from the Framingham Heart Study...
March 8, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28285769/mutations-in-the-spliceosome-component-cwc27-cause-retinal-degeneration-with-or-without-additional-developmental-anomalies
#4
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel A Lopez-Martinez, Liliana F Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda-Sanchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T Soens, Lizhu Yang, Christine Bole-Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E Cheetham, Stanislas Lyonnet, Smriti A Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F Schorderet
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms...
March 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28285767/large-scale-trans-eqtls-affect-hundreds-of-transcripts-and-mediate-patterns-of-transcriptional-co-regulation
#5
Boel Brynedal, JinMyung Choi, Towfique Raj, Robert Bjornson, Barbara E Stranger, Benjamin M Neale, Benjamin F Voight, Chris Cotsapas
Efforts to decipher the causal relationships between differences in gene regulation and corresponding differences in phenotype have been stymied by several basic technical challenges. Although detecting local, cis-eQTLs is now routine, trans-eQTLs, which are distant from the genes of origin, are far more difficult to find because millions of SNPs must currently be compared to thousands of transcripts. Here, we demonstrate an alternative approach: we looked for SNPs associated with the expression of many genes simultaneously and found that hundreds of trans-eQTLs each affect hundreds of transcripts in lymphoblastoid cell lines across three African populations...
March 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257695/response-to-yehia-et%C3%A2-al
#6
LETTER
Abdul K Siraj, Tariq Masoodi, Fowzan S Alkuraya, Khawla S Al-Kuraya
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257694/thyroglobulin-in-metastatic-thyroid-cancer-culprit-or-red-herring
#7
LETTER
Lamis Yehia, Ying Ni, Charis Eng
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257693/hypomorphic-pathogenic-variants-in-taf13-are-associated-with-autosomal-recessive-intellectual-disability-and-microcephaly
#8
Hasan Tawamie, Igor Martianov, Natalie Wohlfahrt, Rebecca Buchert, Gabrielle Mengus, Steffen Uebe, Luigi Janiri, Franz Wolfgang Hirsch, Johannes Schumacher, Fulvia Ferrazzi, Heinrich Sticht, André Reis, Irwin Davidson, Roberto Colombo, Rami Abou Jamra
In two independent consanguineous families each with two children affected by mild intellectual disability and microcephaly, we identified two homozygous missense variants (c.119T>A [p.Met40Lys] and c.92T>A [p.Leu31His]) in TATA-box-binding-protein-associated factor 13 (TAF13). Molecular modeling suggested a pathogenic effect of both variants through disruption of the interaction between TAF13 and TAF11. These two proteins form a histone-like heterodimer that is essential for their recruitment into the general RNA polymerase II transcription factor IID (TFIID) complex...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257692/a-ribosomopathy-reveals-decoding-defective-ribosomes-driving-human-dysmorphism
#9
Nahuel A Paolini, Martin Attwood, Samuel B Sondalle, Carolina Marques Dos Santos Vieira, Anita M van Adrichem, Franca M di Summa, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Swaksha Rachuri, Joseph W Briggs, Roman Fischer, Peter J Ratcliffe, Marcin W Wlodarski, Riekelt H Houtkooper, Marieke von Lindern, Taco W Kuijpers, Jonathan D Dinman, Susan J Baserga, Matthew E Cockman, Alyson W MacInnes
Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic features. One individual additionally presents with intellectual disability and autism spectrum disorder. The amino acid substitutions lie in two highly conserved loop regions of uS12 with known roles in maintaining the accuracy of mRNA codon translation...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257691/cpg-methylation-a-parent-of-origin-effect-for-maternal-biased-transmission-of-congenital-myotonic-dystrophy
#10
Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E Pearson
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large expansions, and almost exclusive maternal transmission. The correlation between CDM1 and expansion size is not absolute, suggesting contributions of other factors. We determined CpG methylation flanking the CTG repeat in 79 blood samples from 20 CDM1-affected individuals; 21, 27, and 11 individuals with DM1 but not CDM1 (henceforth non-CDM1) with maternal, paternal, and unknown inheritance; and collections of maternally and paternally derived chorionic villus samples (7 CVSs) and human embryonic stem cells (4 hESCs)...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257690/genetic-regulation-of-adipose-gene-expression-and-cardio-metabolic-traits
#11
Mete Civelek, Ying Wu, Calvin Pan, Chelsea K Raulerson, Arthur Ko, Aiqing He, Charles Tilford, Niyas K Saleem, Alena Stančáková, Laura J Scott, Christian Fuchsberger, Heather M Stringham, Anne U Jackson, Narisu Narisu, Peter S Chines, Kerrin S Small, Johanna Kuusisto, Brian W Parks, Päivi Pajukanta, Todd Kirchgessner, Francis S Collins, Peter S Gargalovic, Michael Boehnke, Markku Laakso, Karen L Mohlke, Aldons J Lusis
Subcutaneous adipose tissue stores excess lipids and maintains energy balance. We performed expression quantitative trait locus (eQTL) analyses by using abdominal subcutaneous adipose tissue of 770 extensively phenotyped participants of the METSIM study. We identified cis-eQTLs for 12,400 genes at a 1% false-discovery rate. Among an approximately 680 known genome-wide association study (GWAS) loci for cardio-metabolic traits, we identified 140 coincident cis-eQTLs at 109 GWAS loci, including 93 eQTLs not previously described...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257689/2016-victor-a-mckusick-leadership-award
#12
Stanley M Gartler
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257688/2016-victor-a-mckusick-leadership-award-introduction-stanley-gartler
#13
Gail P Jarvik
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257687/2016-curt-stern-award-address-from-rare-to-common-diseases-translating-genetic-discovery-to-therapy
#14
Brendan Lee
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257686/2016-curt-stern-award-introduction-brendan-lee
#15
Arthur L Beaudet
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257685/2016-william-allan-award-human-disease-research-genetic-cycling-and-re-cycling
#16
James F Gusella
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257684/2016-william-allan-award-introduction-james-gusella
#17
David L Nelson
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257683/2016-presidential-address-let-s-make-human-genetics-great-again-the-importance-of-beauty-in-science
#18
Harry C Dietz
No abstract text is available yet for this article.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28257682/2016-ashg-awards-and-addresses
#19
(no author information available yet)
Each year at the annual meeting of the American Society of Human Genetics (ASHG), addresses are given in honor of the society and a number of award winners. A summary of each of these is given below. On the following pages, we have printed the presidential address and the addresses for the William Allan Award, Curt Stern Award, and Victor A. McKusick Leadership Award. Webcasts of these addresses, as well as those of many other presentations, can be found at http://www.ashg.org.
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28238358/integrating-gene-expression-with-summary-association-statistics-to-identify-genes-associated-with-30-complex-traits
#20
Nicholas Mancuso, Huwenbo Shi, Pagé Goddard, Gleb Kichaev, Alexander Gusev, Bogdan Pasaniuc
Although genome-wide association studies (GWASs) have identified thousands of risk loci for many complex traits and diseases, the causal variants and genes at these loci remain largely unknown. Here, we introduce a method for estimating the local genetic correlation between gene expression and a complex trait and utilize it to estimate the genetic correlation due to predicted expression between pairs of traits. We integrated gene expression measurements from 45 expression panels with summary GWAS data to perform 30 multi-tissue transcriptome-wide association studies (TWASs)...
March 2, 2017: American Journal of Human Genetics
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