Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.

abstract：PURPOSE:To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. METHODS:We retrospectively analyzed genomic test...

journal_title：Molecular genetics & genomic medicine

authors： Davis KW,Hamby Erby L,Fiallos K,Martin M,Wassman ER

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a "Systematic Survey of Balanced Chromosomal Rearrangements in Finns." In the first family, carriers...

journal_title：Molecular genetics & genomic medicine

authors： Luukkonen TM,Mehrjouy MM,Pöyhönen M,Anttonen AK,Lahermo P,Ellonen P,Paulin L,Tommerup N,Palotie A,Varilo T

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:MicroRNA-33a (miR-33a) plays the role of the tumor suppressor gene by regulating the expression level of downstream genes. However, the effects of miR-33a in renal cell cancer (RCC) remain unknown. Our study was designed to investigate the expression level and potential function of miR-33a in RCC. METHODS:R...

journal_title：Molecular genetics & genomic medicine

authors： Jiang K,Sun F,Zhu J,Luo G,Ban Y,Zhang P

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2-1(*600635), and PAX9(*167416) and a distal region (RO2), including NKX2-1 and PAX9. We ...

journal_title：Molecular genetics & genomic medicine

authors： Ponzi E,Gentile M,Agolini E,Matera E,Palumbi R,Buonadonna AL,Peschechera A,Gabellone A,Antonucci MF,Margari L

更新日期：2020-07-01 00:00:00

abstract：BACKGROUND:Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopat...

journal_title：Molecular genetics & genomic medicine

authors： Telese R,Pagliarani S,Lerario A,Ciscato P,Fagiolari G,Cassandrini D,Grimoldi N,Conte G,Cinnante C,Santorelli FM,Comi GP,Sciacco M,Peverelli L

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Zhu-Tokita-Takenouchi-Kim (ZTTK, OMIM# 617140) syndrome is a rare, autosomal dominant genetic disorder caused by heterozygous variants in the SON gene (OMIM#182465, GenBank#NC_000021.9). There are only 33 cases and 26 causative SON variants reported to date since the first report in 2015. Here, we report a n...

journal_title：Molecular genetics & genomic medicine

authors： Yang L,Yang F

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:Aneurysmal subarachnoid hemorrhage (aSAH) has high fatality and permanent disability rates due to the severe damage to brain cells and inflammation. The SERPINE1 gene that encodes PAI-1 for the regulation of tissue plasminogen activator is considered an important therapeutic target for aSAH. METHODS:Six SNP...

journal_title：Molecular genetics & genomic medicine

authors： Lin M,Griessenauer CJ,Starke RM,Tubbs RS,Shoja MM,Foreman PM,Vyas NA,Walters BC,Harrigan MR,Hendrix P,Fisher WS,Pittet JF,Mathru M,Lipsky RH

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays a critical role in neurogenesis and during development of many organs, such as the eye lens, liver, and pancreas. METHODS:We used next-generation ...

journal_title：Molecular genetics & genomic medicine

authors： Ricci M,Amato B,Barati S,Compagna R,Veselenyiova D,Kenanoglu S,Stuppia L,Beccari T,Baglivo M,Kurti D,Krajcovic J,Serrani R,Dundar M,Basha SH,Chiurazzi P,Bertelli M

更新日期：2020-10-01 00:00:00

abstract：:Chromosomal microarray analysis (CMA) is now established as the first-tier cytogenetic diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with developmental delay/intellectual disability (DD/ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). We present ...

journal_title：Molecular genetics & genomic medicine

authors： Zilina O,Teek R,Tammur P,Kuuse K,Yakoreva M,Vaidla E,Mölter-Väär T,Reimand T,Kurg A,Ounap K

更新日期：2014-03-01 00:00:00

abstract：BACKGROUND:Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pa...

journal_title：Molecular genetics & genomic medicine

authors： Sukalo M,Schäflein E,Schanze I,Everman DB,Rezaei N,Argente J,Lorda-Sanchez I,Deshpande C,Takahashi T,Kleger A,Zenker M

更新日期：2017-11-01 00:00:00

abstract：BACKGROUND:Incontinentia pigmenti (IP) is a rare X-linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low-level mosaicism existed in the remaining...

journal_title：Molecular genetics & genomic medicine

authors： Kawai M,Kato T,Tsutsumi M,Shinkai Y,Inagaki H,Kurahashi H

更新日期：2020-12-01 00:00:00

abstract：BACKGROUND:Insulin resistance (IR), known to reduce the response to insulin action, develops with obesity leading to type 2 diabetes mellitus (T2DM). The PC-1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. The objective of the present study was to inve...

journal_title：Molecular genetics & genomic medicine

authors： Albegali AA,Shahzad M,Ullah MI,Mahmood S,Rashid M

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. Haploinsufficiency and also point mutations of NFIX gene have been proposed as its leading causative mechanism, however, due to the limited number of cases and different deletion sizes, genotype/phenotyp...

journal_title：Molecular genetics & genomic medicine

authors： Bellucco FT,de Mello CB,Meloni VA,Melaragno MI

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:IKZF1 is a relevant gene associated with the pathogenesis of acute lymphoblastic leukemia, and the rs4132601 (T>G) and rs11978267 (A>G) polymorphisms have been associated with the development of this disease in several populations. The aim of this study was to determine the allelic and genotypic frequencies ...

journal_title：Molecular genetics & genomic medicine

authors： Gutiérrez-Franco J,Ayón-Pérez MF,Durán-Avelar MJ,Vibanco-Pérez N,Sánchez-Jasso DE,Bañuelos-Aguayo DG,Sánchez-Meza J,Pimentel-Gutiérrez HJ,Zambrano-Zaragoza JF,Agraz-Cibrián JM,Vázquez-Reyes A

更新日期：2021-01-16 00:00:00

abstract：BACKGROUND:Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. METHODS:Routine cytogenomic analyses and literature ...

journal_title：Molecular genetics & genomic medicine

authors： Chai H,Grommisch B,DiAdamo A,Wen J,Hui P,Li P

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Apolipoprotein E (ApoE) is a glycoprotein that plays an important role in lipid homeostasis at both cerebral and systemic levels. Moreover, the differential distribution of APOE gene alleles among different populations, means that ApoE isoforms could have different effects on lipids metabolism. The present s...

journal_title：Molecular genetics & genomic medicine

authors： Martínez-Magaña JJ,Genis-Mendoza AD,Tovilla-Zarate CA,González-Castro TB,Juárez-Rojop IE,Hernández-Díaz Y,Martinez-Hernandez AG,Garcia-Ortíz H,Orozco L,López-Narvaez ML,Nicolini H

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND:The Latrophilin 3 (LPHN3) gene (recently renamed Adhesion G protein-coupled receptor L3 (ADGRL3)) has been linked to susceptibility to attention deficit/hyperactivity disorder (ADHD) and vulnerability to addiction. However, its role and function are not well understood as there are no known functional varian...

journal_title：Molecular genetics & genomic medicine

authors： Orsini CA,Setlow B,DeJesus M,Galaviz S,Loesch K,Ioerger T,Wallis D

更新日期：2016-03-04 00:00:00

abstract：BACKGROUND:Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosi...

journal_title：Molecular genetics & genomic medicine

authors： Jezela-Stanek A,Ciara E,Jurkiewicz D,Kucharczyk M,Jędrzejowska M,Chrzanowska KH,Krajewska-Walasek M,Żemojtel T

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Kidney renal clear cell carcinoma (KIRC) is the most common subtype of renal tumor. However, the molecular mechanisms of KIRC pathogenesis remain little known. The purpose of our study was to identify potential key genes related to the occurrence and prognosis of KIRC, which could serve as novel diagnostic a...

journal_title：Molecular genetics & genomic medicine

authors： Zhang B,Wu Q,Wang Z,Xu R,Hu X,Sun Y,Wang Q,Ju F,Ren S,Zhang C,Qin L,Ma Q,Zhou YL

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Neural tube defects (NTDs) are severe congenital malformations. Diabetes during pregnancy is a risk factor for NTDs, but its mechanism remains elusive. Emerging evidence suggests that protein malonylation is involved in diabetes. Here, we report the correlation between histone lysine malonylation in diabetes...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Q,Cai T,Xiao Z,Li D,Wan C,Cui X,Bai B

更新日期：2020-09-01 00:00:00

abstract：:Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and potential areas of development. ...

journal_title：Molecular genetics & genomic medicine

authors： Nutter SC,Gálvez-Peralta M

更新日期：2018-05-01 00:00:00

abstract：BACKGROUND:Male-specifically inherited Y-STRs have been widely used in population genetics and forensic investigations. METHODS:We genotyped and analyzed Y chromosome haplotypes of 408 unrelated Tibeto-Burman-speaking Yi male individuals from Guizhou using Goldeneye® Y-PLUS kit. Population comparisons between the Guiz...

journal_title：Molecular genetics & genomic medicine

authors： Song Z,Wang Q,Zhang H,Tang J,Wang Q,Zhang H,Yang M,Ji J,Ren Z,Wu Y,Huang J

更新日期：2021-01-15 00:00:00

abstract：BACKGROUND:The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating AGG loss to the preval...

journal_title：Molecular genetics & genomic medicine

authors： Manor E,Gonen R,Sarussi B,Keidar-Friedman D,Kumar J,Tang HT,Tassone F

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Susceptibility to Graves' disease (GD) is determined by various genetic factors; the gene encoding protein tyrosine phosphatase (PTPN22) may be one of those associated with higher risk of GD. The aim was to estimate the association of the PTPN22 gene polymorphism rs2476601:c.C>T (c.1858C>T) with the predispo...

journal_title：Molecular genetics & genomic medicine

authors： Wawrusiewicz-Kurylonek N,Koper-Lenkiewicz OM,Gościk J,Myśliwiec J,Pawłowski P,Krętowski AJ

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Excessive or prolonged usage of dexamethasone can cause serious side effects, but few studies reveal the related mechanism. Dexamethasone work differently in blood tumors and solid tumors, and the cause is still obscure. The aims of this study was to identify potential biomarkers associated with the side eff...

journal_title：Molecular genetics & genomic medicine

authors： Jiang D,Jin H,Zuo J,Kong Y,Zhang X,Dong Q,Xu Z,Li Y

更新日期：2020-04-01 00:00:00

abstract：BACKGROUND:Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end-stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X-linked in the majority of families and caused by sequence variants in th...

journal_title：Molecular genetics & genomic medicine

authors： Helle OMB,Pedersen TH,Ousager LB,Thomassen M,Hertz JM

更新日期：2020-10-01 00:00:00

abstract：PURPOSE:Histone deacetylase inhibitor (HDACI) is a novel therapeutic option for cancer. However, the effects of HDACIs on chronic myeloid leukemia (CML) and the underlying mechanisms are still unknown. The aim of this study was to investigate the effect and the mechanism-of-action of two HDACI members, sodium butyrate ...

journal_title：Molecular genetics & genomic medicine

authors： Jia X,Zheng Y,Guo Y,Chen K

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Polycystic kidney disease (PKD) is the most common hereditary kidney disease. The main mutational genes causing autosomal dominant polycystic kidney disease (ADPKD) are PKD1 and PKD2 as well as some rare pathogenic genes. Unilateral PKD is rare in clinics, and its association with gene mutations is unclear. ...

journal_title：Molecular genetics & genomic medicine

authors： Wang T,Li Q,Shang S,Geng G,Xie Y,Cai G,Chen X

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Age-related cataracts (ARC) is the most common blinding eye disease worldwide, and its incidence tend to become younger. However, the relationship between genetic factors and mechanisms is not fully understood. The aim of the study was to further clarify the relationship between ARC and genetic mechanisms in...

journal_title：Molecular genetics & genomic medicine

authors： Li JK,Li LL,Li W,Wang ZW,Gao FJ,Hu FY,Zhang SH,Qu SF,Huang J,Wang LS,Wu JH,Chen F

更新日期：2020-07-01 00:00:00

abstract：BACKGROUND:To explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy-primarily due to aortic pathology. METHODS:A follow-up study of 84 MFS adults, initially invest...

journal_title：Molecular genetics & genomic medicine

authors： Vanem TT,Geiran OR,Krohg-Sørensen K,Røe C,Paus B,Rand-Hendriksen S

更新日期：2018-11-01 00:00:00