Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema.

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:Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by ...

journal_title：Molecular genetics & genomic medicine

authors： Salinas-Torres VM,Gallardo-Blanco HL,Salinas-Torres RA,Cerda-Flores RM,Lugo-Trampe JJ,Villarreal-Martínez DZ,Ibarra-Ramírez M,Martínez de Villarreal LE

更新日期：2020-05-01 00:00:00

abstract：BACKGROUND:EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a result we aimed to estab...

journal_title：Molecular genetics & genomic medicine

authors： Abdelhadi O,Iancu D,Tekman M,Stanescu H,Bockenhauer D,Kleta R

更新日期：2016-06-07 00:00:00

abstract：BACKGROUND:Eight different deletions and point variants of the X-chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N-terminal protein coding part of CNKSR2 or with a deletion of the complete g...

journal_title：Molecular genetics & genomic medicine

authors： Polla DL,Saunders HR,de Vries BBA,van Bokhoven H,de Brouwer APM

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X-linked eye disorder arising from...

journal_title：Molecular genetics & genomic medicine

authors： Fioretti T,Ungari S,Savarese M,Cattaneo F,Pirozzi E,Esposito G

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a novel de novo mutation ...

journal_title：Molecular genetics & genomic medicine

authors： Xiong Q,Li W,Li P,Zhao Z,Wu C,Xiao H

更新日期：2019-09-01 00:00:00

abstract：BACKGROUND:This study investigated the effects of haplotypes T-G and C-A derived from NG_012836.1:g.4160T>C and NG_012836.1:g.4326G>A on protein expression levels in vitro and identified the functional sequence in the regulatory region of the GABRB3 gene linked to possible associations with schizophrenia. METHODS:Reco...

journal_title：Molecular genetics & genomic medicine

authors： Liu Y,Ding M,Liu YP,Zhang XC,Xing JX,Xuan JF,Xia X,Yao J,Wang BJ

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:CAP+1 [A>C] (HBB:c.-50A>C) is a rare silent β-thalassemia (β-thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β-thalassemia mutations, leading to variable p...

journal_title：Molecular genetics & genomic medicine

authors： Murad H,Moassas F,Fakseh NAL

更新日期：2021-01-24 00:00:00

abstract：BACKGROUND:Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown. METHODS:We examined 93 Japanese patients with clinically suspected PCD from 84 unrelated fami...

journal_title：Molecular genetics & genomic medicine

authors： Takeuchi K,Xu Y,Kitano M,Chiyonobu K,Abo M,Ikegami K,Ogawa S,Ikejiri M,Kondo M,Gotoh S,Nagao M,Fujisawa T,Nakatani K

更新日期：2020-03-01 00:00:00

abstract：:Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas class...

journal_title：Molecular genetics & genomic medicine

authors： Coelho AI,Trabuco M,Ramos R,Silva MJ,Tavares de Almeida I,Leandro P,Rivera I,Vicente JB

更新日期：2014-11-01 00:00:00

abstract：:Mutation-induced activation of splice sites in intronic repetitive sequences has contributed significantly to the evolution of exon-intron structure and genetic disease. Such events have been associated with mutations within transposable elements, most frequently in mutation hot-spots of Alus. Here, we report a case o...

journal_title：Molecular genetics & genomic medicine

authors： Nozu K,Iijima K,Ohtsuka Y,Fu XJ,Kaito H,Nakanishi K,Vorechovsky I

更新日期：2014-09-01 00:00:00

abstract：BACKGROUND:Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of penetrance and expressivity have been difficult to obtain. We here describe a large pedigree, from which such estimates have been calculated. ...

journal_title：Molecular genetics & genomic medicine

authors： Gardner RJM,Crozier IG,Binfield AL,Love DR,Lehnert K,Gibson K,Lintott CJ,Snell RG,Jacobsen JC,Jones PP,Waddell-Smith KE,Kennedy MA,Skinner JR

更新日期：2019-01-01 00:00:00

abstract：:The impact of cryptic relatedness (CR) on genomic association studies is well studied and known to inflate false-positive rates as reported by several groups. In contrast, conventional epidemiological studies for environmental risks, the confounding effect of CR is still uninvestigated. In this study, we investigated ...

journal_title：Molecular genetics & genomic medicine

authors： Shibata K,Hozawa A,Tamiya G,Ueki M,Nakamura T,Narimatsu H,Kubota I,Ueno Y,Kato T,Yamashita H,Fukao A,Kayama T,Yamagata University Genomic Cohort Consortiuma.

更新日期：2013-05-01 00:00:00

abstract：:Definitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early in the diagnostic wo...

journal_title：Molecular genetics & genomic medicine

authors： Williams EL,Bagg EA,Mueller M,Vandrovcova J,Aitman TJ,Rumsby G

更新日期：2015-01-01 00:00:00

abstract：:The presence of body wall closing defects (abdominoschisis and thoracoabdominoschisis) in combination with other congenital malformations was studied in the pig (Sus scrofa domesticus). After clinical examination and literature review, body wall defects with multiple congenital anomalies in eight pigs were described, ...

journal_title：Molecular genetics & genomic medicine

authors： Martín-Alguacil N,Avedillo L

更新日期：2020-06-01 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:Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ-thalassemia and δ-thalassemia are rare inherited disorders which may complicate the diagnosis of β-thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. METHODS:A total of 33,596 subjects w...

journal_title：Molecular genetics & genomic medicine

authors： Zhang J,Yang Y,Li P,Yan Y,Lv T,Zhao T,Zeng X,Li D,Zhou X,Chen H,Su J,Yang T,He J,Zhu B

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Site-1 Protease (S1P) is a Golgi-resident protein required for the activation of regulatory proteins that drive key cellular functions, including, the unfolded protein response (UPR) and lipid and cholesterol biosynthesis. While disruptions in S1P function have been widely characterized in animal models, to ...

journal_title：Molecular genetics & genomic medicine

authors： Schweitzer GG,Gan C,Bucelli RC,Wegner D,Schmidt RE,Shinawi M,Finck BN,Brookheart RT

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Karyotype determination has a central role in the genetic workup of pregnancy loss, as aneuploidy (trisomy and monosomy) and polyploidy (triploidy and tetraploidy) are the cause in at least 50% of first trimester, 25% of second trimester, and 11% of third trimester miscarriages. There are several limitations...

journal_title：Molecular genetics & genomic medicine

authors： Babu R,Van Dyke DL,Bhattacharya S,Dev VG,Liu M,Kwon M,Gu G,Koduru P,Rao N,Williamson C,Fuentes E,Fuentes S,Papa S,Kopuri S,Lal V

更新日期：2018-05-01 00:00:00

abstract：:Current practice by clinical diagnostic laboratories is to utilize online prediction programs to help determine the significance of novel variants in a given gene sequence. However, these programs vary widely in their methods and ability to correctly predict the pathogenicity of a given sequence change. The performanc...

journal_title：Molecular genetics & genomic medicine

authors： Walters-Sen LC,Hashimoto S,Thrush DL,Reshmi S,Gastier-Foster JM,Astbury C,Pyatt RE

更新日期：2015-03-01 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：: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:Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype-phenotype relationship. METHODS:A large c...

journal_title：Molecular genetics & genomic medicine

authors： Chi DV,Tran TH,Nguyen DH,Luong LH,Le PT,Ta MH,Ngo HTT,Nguyen MP,Le-Anh TP,Nguyen DP,Bui TH,Ta VT,Tran VK

更新日期：2019-05-01 00:00:00

abstract：:We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region betw...

journal_title：Molecular genetics & genomic medicine

authors： Lindgren V,McRae A,Dineen R,Saulsberry A,Hoganson G,Schrift M

更新日期：2015-07-01 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: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:The heritability of several psychiatric disorders is high, and specific at-risk variants have been identified. Therefore, genetic counseling and genetic testing can be prescribed to some psychiatric patients, but these services are not standardized for most of the population. The aims of the study were to ga...

journal_title：Molecular genetics & genomic medicine

authors： Martorell L,Sanfeliu A,Blázquez A,Lojo E,Cortés MJ,de Pablo J,Vilella E

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:The mitochondrial DNA m.3243A>G mutation is one the most prevalent mutation causing mitochondrial disease in adult patients. Several cohort studies have used heteroplasmy levels in urinary epithelial cells (UEC) to correlate the genotype of the patients to the clinical severity. However, the interpretation o...

journal_title：Molecular genetics & genomic medicine

authors： de Laat P,Rodenburg RJ,Smeitink JAM,Janssen MCH

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn-around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively asses...

journal_title：Molecular genetics & genomic medicine

authors： Zheng J,Zhang H,Banerjee S,Li Y,Zhou J,Yang Q,Tan X,Han P,Fu Q,Cui X,Yuan Y,Zhang M,Shen R,Song H,Zhang X,Zhao L,Peng Z,Wang W,Yin Y

更新日期：2019-07-01 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