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https://www.readbyqxmd.com/read/28346723/a-systematic-review-of-genetic-syndromes-with-obesity
#1
REVIEW
Y Kaur, R J de Souza, W T Gibson, D Meyre
Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references...
March 27, 2017: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28346074/germline-genetic-predictors-of-aromatase-inhibitor-concentrations-estrogen-suppression-and-drug-efficacy-and-toxicity-in-breast-cancer-patients
#2
Daniel L Hertz, N Lynn Henry, James M Rae
The third-generation aromatase inhibitors (AIs), anastrozole, letrozole and exemestane, are highly effective for the treatment of estrogen receptor-positive breast cancer in postmenopausal women. AIs inhibit the aromatase (CYP19A1)-mediated production of estrogens. Most patients taking AIs achieve undetectable blood estrogen concentrations resulting in drug efficacy with tolerable side effects. However, some patients have suboptimal outcomes, which may be due, in part, to inherited germline genetic variants...
March 27, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28346058/promising-pharmacogenetic-targets-for-treating-alcohol-use-disorder-evidence-from-preclinical-models
#3
Jennifer A Rinker, Patrick J Mulholland
Inherited genetic variants contribute to risk factors for developing an alcohol use disorder, and polymorphisms may inform precision medicine strategies for treating alcohol addiction. Targeting genetic mutations linked to alcohol phenotypes has provided promising initial evidence for reducing relapse rates in alcoholics. Although successful in some studies, there are conflicting findings and the reports of adverse effects may ultimately limit their clinical utility, suggesting that novel pharmacogenetic targets are necessary to advance precision medicine approaches...
March 27, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28345808/molecular-genetic-analysis-of-the-melanoma-regulatory-locus-in-xiphophorus-interspecies-hybrids
#4
Yuan Lu, Mikki Boswell, William Boswell, Susanne Kneitz, Michael Hausmann, Barbara Klotz, Janine Regneri, Markita Savage, Angel Amores, John Postlethwait, Wesley Warren, Manfred Schartl, Ronald Walter
Development of spontaneous melanoma in Xiphophorus interspecies backcross hybrid progeny, (X. hellerii × [X. maculatus Jp 163 A × X. hellerii]) is due to Mendelian segregation of a oncogene (xmrk) and a molecularly uncharacterized locus, called R(Diff), on LG5. R(Diff) is thought to suppresses the activity of xmrk in healthy X. maculatus Jp 163 A parental species that rarely develop melanoma. To better understand the molecular genetics of R(Diff), we utilized RNA-Seq to study allele-specific gene expression of spontaneous melanoma tumors and corresponding normal skin samples derived from 15 first generation backcross (BC1 ) hybrids and 13 fifth generation (BC5 ) hybrids...
March 27, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28345005/chronic-enzyme-replacement-to-the-brain-of-a-late-infantile-neuronal-ceroid-lipofuscinosis-mouse-has-differential-effects-on-phenotypes-of-disease
#5
Jennifer A Wiseman, Yu Meng, Yuliya Nemtsova, Paul G Matteson, James H Millonig, Dirk F Moore, David E Sleat, Peter Lobel
Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase 1 (TPP1). We have investigated the effects of chronic intrathecal (IT) administration using enzyme replacement therapy (ERT) to the brain of an LINCL mouse model, in which locomotor function declines dramatically prior to early death. Median lifespan was significantly extended from 126 days to >259 days when chronic IT treatment was initiated before the onset of disease...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28343968/met-2-dependent-h3k9-methylation-suppresses-transgenerational-small-rna-inheritance
#6
Itamar Lev, Uri Seroussi, Hila Gingold, Roberta Bril, Sarit Anava, Oded Rechavi
In C. elegans, alterations to chromatin produce transgenerational effects, such as inherited increase in lifespan and gradual loss of fertility. Inheritance of histone modifications can be induced by double-stranded RNA-derived heritable small RNAs. Here, we show that the mortal germline phenotype, which is typical of met-2 mutants, defective in H3K9 methylation, depends on HRDE-1, an argonaute that carries small RNAs across generations, and is accompanied by accumulated transgenerational misexpression of heritable small RNAs...
March 21, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28343963/maternally-inherited-stable-intronic-sequence-rna-triggers-a-self-reinforcing-feedback-loop-during-development
#7
Mandy Li-Ian Tay, Jun Wei Pek
Maternally inherited noncoding RNAs (ncRNAs) can regulate zygotic gene expression across generations [1-4]. Recently, many stable intronic sequence RNAs (sisRNAs), which are byproducts of pre-mRNA splicing, were found to be maternally deposited and persist till zygotic transcription in Xenopus and Drosophila [5-7]. In various organisms, sisRNAs can be in linear or circular conformations, and they have been suggested to regulate host gene expression [5-10]. It is unknown whether maternally deposited sisRNAs can regulate zygotic gene expression in the embryos...
March 17, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28343090/developmental-systems-of-plasticity-and-trans-generational-epigenetic-inheritance-in-nematodes
#8
REVIEW
Vahan Serobyan, Ralf J Sommer
Several decades of research provided detailed insight into how genes control development and evolution, whereas recent studies have expanded this purely genetic perspective by presenting strong evidence for environmental and epigenetic influences. We summarize examples of phenotypic plasticity and trans-generational epigenetic inheritance in the nematode model organisms Pristionchus pacificus and Caenorhabditis elegans, which indicate that the response of developmental systems to environmental influences is hardwired into the organismś genome...
March 23, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28342631/systematic-review-impact-of-the-new-task-force-criteria-in-the-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy
#9
Giuseppe Femia, Raymond W Sy, Rajesh Puranik
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder of cardiac desmosomes associated with ventricular arrhythmias and sudden cardiac death. The clinical diagnosis is problematic and relies on a complex criteria composed of clinical and non-clinical parameters. In 2010, the original 1994 Task Force Criteria (TFC) was revised with particular attention given to the imaging parameters. METHODS: Five retrospective studies compared the diagnostic concordance between the 1994 and 2010 TFC...
March 19, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28342451/tert-promoter-mutations-in-telomere-biology
#10
REVIEW
Barbara Heidenreich, Rajiv Kumar
Telomere repeats at chromosomal ends, critical to genome integrity, are maintained through an elaborate network of proteins and pathways. Shelterin complex proteins shield telomeres from induction of DNA damage response to overcome end protection problem. A specialized ribonucleic protein, telomerase, maintains telomere homeostasis through repeat addition to counter intrinsic shortcomings of DNA replication that leads to gradual sequence shortening in successive mitoses. The biogenesis and recruitment of telomerase composed of telomerase reverse transcriptase (TERT) subunit and an RNA component, takes place through the intricate machinery that involves an elaborate number of molecules...
January 2017: Mutation Research
https://www.readbyqxmd.com/read/28342220/prenatal-course-of-metaphyseal-anadysplasia-associated-with-homozygous-mutation-in-mmp9-identified-by-exome-sequencing
#11
Reuven Sharony, Zvi Borochowitz, Lior Cohen, Atalia Storch, Revital Rosenfeld, Shira Modai, Eyal Reinstein
Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in only one consanguineous family, and thus the pre and postnatal phenotypic spectrum is still obscure. A clinically similar but more severe type is caused by autosomal-dominant inheritance and is caused by mutations in matrix metalloproteinase type 13 gene (MMP13)(...
March 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28341588/targeted-next-generation-sequencing-of-51-genes-involved-in-primary-electrical-disease
#12
Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer
Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome, short QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and catecholaminergic polymorphic ventricular tachycardia. To overcome the diagnostic challenges imposed by the clinical and genetic heterogeneity of PED, we developed a targeted gene panel for next-generation sequencing of 51 PED genes...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28341520/in-silico-prediction-of-the-effects-of-mutations-in-the-human-triose-phosphate-isomerase-gene-towards-a-predictive-framework-for-tpi-deficiency
#13
Conor Oliver, David J Timson
Triose phosphate isomerase (TPI) deficiency is a rare, but highly debilitating, inherited metabolic disease. Almost all patients suffer severe neurological effects and the most severely affected are unlikely to live beyond early childhood. Here, we describe an in silico study into well-characterised variants which are associated with the disease alongside an investigation into 79 currently uncharacterised TPI variants which are known to occur in the human population. The majority of the disease-associated mutations affected amino acid residues close to the dimer interface or the active site...
March 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28341476/panel-based-clinical-genetic-testing-in-85-children-with-inherited-retinal-disease
#14
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, Christopher Campbell, Claire M Delaney, Jamie M Ellingford, Georgina Hall, Claire Hardcastle, Jiten Morarji, Elisabeth J Nichol, Lindsi C Williams, Sofia Douzgou, Jill Clayton-Smith, Simon C Ramsden, Vinod Sharma, Susmito Biswas, I Chris Lloyd, Jane L Ashworth, Graeme C Black, Panagiotis I Sergouniotis
PURPOSE: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). DESIGN: Single-center retrospective case series. PARTICIPANTS: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. METHODS: Participants underwent a detailed ophthalmic examination, accompanied by electrodiagnostic testing (EDT) and dysmorphologic assessment where appropriate...
March 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28341450/oral-surgery-in-patients-with-glanzmann-thrombasthenia-a-case-series
#15
Eleonora Segna, Andrea Artoni, Raffaele Sacco, Aldo Bruno Giannì
Glanzmann thrombasthenia is a severe defect of platelet function caused by an inherited deficiency or dysfunction of the glycoprotein IIb/IIIa complex, the platelet fibrinogen receptor. Patients with Glanzmann thrombasthenia experience lifelong spontaneous and post-traumatic mucocutaneous bleeding diathesis. Surgery is usually very challenging, requiring close cooperation among surgeons, hematologists, and anesthesiologists. For anatomic reasons, oral surgery is particularly difficult owing to the inherent risk of hemorrhage and the difficulty in achieving local hemostasis...
February 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28341233/neonatal-reflexes-and-behavior-in-hypertensive-rats-of-isiah-strain
#16
Diana S Ragaeva, Maria A Tikhonova, Olga M Petrova, Tatjana N Igonina, Irina N Rozkova, Eugeny Yu Brusentsev, Tamara G Amstislavskaya, Sergey Ya Amstislavsky
Hypertension is one of the most common diseases in humans, and there is a special concern on the consequences of maternal hypertensive conditions for the health of newborns. An inherited stress-induced arterial hypertension (ISIAH) rat strain has been selected but only a few studies have addressed behavior in these rats. Body weight, neurodevelopmental reflexes, and neuronal density in the hippocampus were compared in ISIAH and normotensive WAG rats during their suckling period. Systolic and diastolic blood pressure (SBP, DBP), adult rat performance in the open field (OF), elevated plus maze (EPM), and novel object recognition (NOR) tests were evaluated at the age of 12-14weeks old...
March 21, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28340691/fabry-disease-a-fundamental-genetic-modifier-of-cardiac-function
#17
REVIEW
A Tadevosyan
Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction...
January 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/28340560/a-novel-pore-region-mutation-c-887g%C3%A2-%C3%A2-a-p-g296d-in-kcnq4-causing-hearing-loss-in-a-chinese-family-with-autosomal-dominant-non-syndromic-deafness-2
#18
Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu, Yongyi Yuan
BACKGROUND: Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal dominant, progressive, high-frequency hearing loss. METHODS: A six-generation Chinese family from Hebei Province with autosomal dominantly inherited, sensorineural, postlingual, progressive hearing loss was enrolled in this study...
March 24, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28340026/high-rate-of-subcutaneous-implantable-cardioverter-defibrillator-sensing-screening-failure-in-patients-with-brugada-syndrome-a-comparison-with-other-inherited-primary-arrhythmia-syndromes
#19
Giulio Conte, Mihoko Kawabata, Carlo de Asmundis, Erika Taravelli, Francesco Petracca, Diego Ruggiero, Maria Luce Caputo, François Regoli, Gian-Battista Chierchia, Alessandra Chiodini, Alessandro Del Bufalo, Tiziano Moccetti, Masahiko Goya, Kenzo Hirao, Alessandro Vicentini, Gaetano M De Ferrari, Pedro Brugada, Angelo Auricchio
Aims: Subcutaneous implantable cardioverter-defibrillator (S-ICD) can avoid important complications associated with transvenous leads in patients with inherited primary arrhythmia syndromes, who do not need pacing therapy. Few data are available on the percentage of patients with inherited arrhythmia syndromes eligible for S-ICD implantation. Aim of this study was to analyse the eligibility for S-ICD in a series of patients with Brugada syndrome (BrS), and to compare it with patients with other channelopathies...
March 7, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28339981/transcriptome-analysis-of-comb-and-testis-from-rose-comb-silky-chicken-r1-r1-and-beijing-fatty-wild-type-chicken-r-r
#20
Y Wang, J Li, C Feng, Y Zhao, X Hu, N Li
Rose-comb was one of the chicken comb-variants first used by Bateson and Punnet in 1902 to demonstrate Mendelian inheritance in animals. Rose-comb is a monogenic trait that has been widely described in chickens. It is caused by a large structural rearrangement that leads to mis-expression of transcription factor MNR2 on chromosome 7. Rose-comb has pleiotropic effects in homozygous roosters, which is associated with poor sperm mobility. It was postulated that this is caused by the disruption of the CCDC108 gene located at the distal inversion breakpoint...
March 2, 2017: Poultry Science
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