Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.

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:To search for new prevention markers for early detection of the diseases caused by tobacco, we aimed to investigate the polymorphisms in TSLP and TSLPRs associated with cigarette smoking in the Saudi population. MATERIALS AND METHODS:Samples were collected from 177 smokers and 126 healthy controls. Three TS...

journal_title：Molecular genetics & genomic medicine

authors： Semlali A,Almutairi M,Azzi A,Reddy Parine N,AlAmri A,Alsulami S,Meshal Alumri T,Saud Alanazi M,Rouabhia M

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Panel-based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa. METHODS:A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed retinitis pigmentosa w...

journal_title：Molecular genetics & genomic medicine

authors： Sun Y,Li W,Li JK,Wang ZS,Bai JY,Xu L,Xing B,Yang W,Wang ZW,Wang LS,He W,Chen F

更新日期：2020-04-01 00:00:00

abstract：BACKGROUND:Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful...

journal_title：Molecular genetics & genomic medicine

authors： Dai Y,Wei Y,Chen Y,Guo H,Zhong M

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Preeclampsia is a serious pregnancy-specific syndrome with incompletely understood pathogenesis. Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the development of preeclampsia. The role of single nucleotide polymorphisms (SNPs) of CXCR2 gene in the pathog...

journal_title：Molecular genetics & genomic medicine

authors： Chen H,Zhang Y,Dai L,Song Y,Wang Y,Zhou B,Zhou R

更新日期：2019-04-01 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：BACKGROUND:Senior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. NPHP1 encodes the protei...

journal_title：Molecular genetics & genomic medicine

authors： Ning K,Song E,Sendayen BE,Prosseda PP,Chang KC,Ghaffarieh A,Alvarado JA,Wang B,Haider KM,Berbari NF,Hu Y,Sun Y

更新日期：2020-12-11 00:00:00

abstract：BACKGROUND:Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. METHODS:Here, we present a patient with an extremely aggressive and giant prolactinoma accompa...

journal_title：Molecular genetics & genomic medicine

authors： Miao Y,Li C,Guo J,Wang H,Gong L,Xie W,Zhang Y

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:The birth year-dependent onset of breast cancer (BC) in BRCA1/2 mutation carriers suggests a risk-modifying role for reproductive and life style factors. We therefore examined possible associations between these factors and age at diagnosis. METHODS:Cox regression analysis and log-Rank testing were used to ...

journal_title：Molecular genetics & genomic medicine

authors： Rieder V,Salama M,Glöckner L,Muhr D,Berger A,Tea MK,Pfeiler G,Rappaport-Fuerhauser C,Gschwantler-Kaulich D,Weingartshofer S,Singer CF

更新日期：2015-12-10 00:00:00

abstract：:In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics. ...

journal_title：Molecular genetics & genomic medicine

authors： Cotignola J,Rozental S,Buzzalino N,Dain L

更新日期：2019-04-01 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:Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin-specific volumetric expansion...

journal_title：Molecular genetics & genomic medicine

authors： Rasool S,Baig JM,Moawia A,Ahmad I,Iqbal M,Waseem SS,Asif M,Abdullah U,Makhdoom EUH,Kaygusuz E,Zakaria M,Ramzan S,Haque SU,Mir A,Anjum I,Fiaz M,Ali Z,Tariq M,Saba N,Hussain W,Budde B,Irshad S,Noegel AA,Höning

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Preeclampsia (PE) is a pregnancy-related hypertensive disorder, which may stem from impair placentation. Renin-angiotensin system is one of the mediators of decidualization and trophoblastic proliferation. In the present study women with PE were studied in a comparison of normotensive controls to determine w...

journal_title：Molecular genetics & genomic medicine

authors： Shaheen G,Sajid S,Razak S,Mazhar SB,Afsar T,Almajwal A,Alam I,Jahan S

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiq...

journal_title：Molecular genetics & genomic medicine

authors： Li B,Zhou T,Zou Y

更新日期：2015-12-12 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：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: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:General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS:We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. R...

journal_title：Molecular genetics & genomic medicine

authors： Vande Perre P,Toledano D,Corsini C,Escriba E,Laporte M,Bertet H,Yauy K,Toledano A,Galibert V,Baudry K,Clotet L,Million E,Picot MC,Geneviève D,Pujol P

更新日期：2018-11-01 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:Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of FA include endocrine abnormalities. International discourse has highl...

journal_title：Molecular genetics & genomic medicine

authors： Dillon B,Feben C,Segal D,du Plessis J,Reynders D,Wainwright R,Poole J,Krause A

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1. METHODS:It was a retrospective case series...

journal_title：Molecular genetics & genomic medicine

authors： Han X,Wu S,Wang M,Li H,Huang Y,Sui R

更新日期：2020-08-01 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:There have been many reports on midkine as a promising marker in the diagnosis of hepatocellular carcinoma (HCC). However, the results are inconsistent and even conflicting. METHODS:This meta-analysis was performed to investigate the accuracy of midkine in the diagnosis of HCC. Meta-DiSc 1.4 software was us...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Y,Tang J,Zhou X,Zhu SL,Li LQ

更新日期：2020-02-01 00:00:00

abstract：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 dom...

journal_title：Molecular genetics & genomic medicine

authors： Magaña-Cerino JM,Luna-Arias JP,Labra-Barrios ML,Avendaño-Borromeo B,Boldo-León XM,Martínez-López MC

更新日期：2016-11-30 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：:Peruvians currently preserve in their DNA the history of 2.5 million years of human evolution and 150,000 years of migration from Africa to Peru or the Americas. The development of Genetics and Genomics in the clinical and academic field is shown in this review. ...

journal_title：Molecular genetics & genomic medicine

authors： Guio H,Poterico JA,Levano KS,Cornejo-Olivas M,Mazzetti P,Manassero-Morales G,Ugarte-Gil MF,Acevedo-Vásquez E,Dueñas-Roque M,Piscoya A,Fujita R,Sanchez C,Casavilca-Zambrano S,Jaramillo-Valverde L,Sullcahuaman-Allende Y,Igles

更新日期：2018-11-01 00:00:00

abstract：:Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, we developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) data (SpliceFinder). SpliceFinder integrates two fun...

journal_title：Molecular genetics & genomic medicine

authors： Spinelli R,Pirola A,Redaelli S,Sharma N,Raman H,Valletta S,Magistroni V,Piazza R,Gambacorti-Passerini C

更新日期：2013-11-01 00:00:00

abstract：BACKGROUND:This study set out to determine key lncRNAs correlated with sepsis via constructing competing endogenous RNA (ceRNA) network. METHODS:Three septic patients and three healthy controls were recruited to obtain lncRNA profiles in this current study. Combined with the mRNA profiles by RNA-sequencing, an integra...

journal_title：Molecular genetics & genomic medicine

authors： Guo X,Qin Y,Wang L,Dong S,Yan Y,Bian X,Zhao C

更新日期：2020-11-25 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:Plasma concentrations of antiretrovirals (ARVs) regimens have considerably varied in individuals of human immunodeficiency virus (HIV) because of variations in the expression of drug-metabolizing and transporter genes. Transporter genes play an important role in the disposition of drugs. Polymorphism in tran...

journal_title：Molecular genetics & genomic medicine

authors： Singh H,Lata S,Choudhari R,Dhole TN

更新日期：2020-06-01 00:00:00