Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

abstract：BACKGROUND:Long noncoding RNAs (lncRNAs) are from the family of noncoding RNAs. Existing studies have shown that lncRNAs are involved in many biological processes and are strongly related to the occurrence and development of tumors. Recent studies have indicated that lncRNA GIHCG participates in the progression of many...

journal_title：Molecular genetics & genomic medicine

authors： Liu G,Jiang Z,Qiao M,Wang F

更新日期：2019-06-01 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: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: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: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:Historically, groups that are most susceptible to health and healthcare disparities have been underrepresented in medical research. It is imperative to explore approaches that can facilitate the recruitment of underrepresented individuals into research studies. METHODS:Two approaches, hospital and community...

journal_title：Molecular genetics & genomic medicine

authors： Bishop MR,Shah A,Shively M,Huskey ALW,Omeler SM,Bilgili EP,Jackson E,Daniell K,Stallworth E,Spina S,Shepp K,Bergstresser S,Davis A,Dean H,Gibson J,Johnson B,Merner ND

更新日期：2018-09-01 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：: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：BACKGROUND:Milroy-like disease is the diagnostic definition used for patients with phenotypes that resemble classic Milroy disease (MD) but are negative to genetic testing for FLT4. In this study, we aimed at performing a genetic characterization and biochemical analysis of VEGF-C variations found in a female proband b...

journal_title：Molecular genetics & genomic medicine

authors： Mukenge S,Jha SK,Catena M,Manara E,Leppänen VM,Lenti E,Negrini D,Bertelli M,Brendolan A,Jeltsch M,Aldrighetti L

更新日期：2020-09-01 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:The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in ...

journal_title：Molecular genetics & genomic medicine

authors： Laadhar S,Ben Mansour R,Marrakchi S,Miled N,Ennouri M,Fischer J,Kaddechi MA,Turki H,Fakhfakh F

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Bardet-Biedl syndrome (BBS) is characterized by a heterogeneous phenotypic spectrum of retinopathy, intellectual disability (ID), obesity, polydactyly, and kidney dysfunctions as the major clinical features. Genetic investigations have reported 21 BBS genes, the products of which are mostly located at the ce...

journal_title：Molecular genetics & genomic medicine

authors： Muzammal M,Zubair M,Bierbaumer S,Blatterer J,Graf R,Gul A,Abbas S,Badar M,Abbasi AA,Khan MA,Windpassinger C

更新日期：2019-08-01 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:Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross-link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS:Using NextGen sequencing, we...

journal_title：Molecular genetics & genomic medicine

authors： Velmurugan KR,Michalak P,Kang L,Fonville NC,Garner HR

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:β-Globin gene cluster haplotypes associated with the Hb D-Los Angeles mutation have been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey. In this study, we have identified genetic relationships and formation periods between t...

journal_title：Molecular genetics & genomic medicine

authors： Ozturk O,Arikan S,Atalay A,Atalay EO

更新日期：2018-11-01 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:Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mitochondrial tryptophanyl-tRNA s...

journal_title：Molecular genetics & genomic medicine

authors： Maffezzini C,Laine I,Dallabona C,Clemente P,Calvo-Garrido J,Wibom R,Naess K,Barbaro M,Falk A,Donnini C,Freyer C,Wredenberg A,Wedell A

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing. However, due to the sequential nature of this methodology and inconsisten...

journal_title：Molecular genetics & genomic medicine

authors： Gheldof A,Seneca S,Stouffs K,Lissens W,Jansen A,Laeremans H,Verloo P,Schoonjans AS,Meuwissen M,Barca D,Martens G,De Meirleir L

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of 1%-2% in the general population. NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. Here, we identified novel in-frame variants in SMAD6 (c.1168_1...

journal_title：Molecular genetics & genomic medicine

authors： Park JE,Park JS,Jang SY,Park SH,Kim JW,Ki CS,Kim DK

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Congenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5-1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the genetic cause of rem...

journal_title：Molecular genetics & genomic medicine

authors： Takeda K,Kou I,Mizumoto S,Yamada S,Kawakami N,Nakajima M,Otomo N,Ogura Y,Miyake N,Matsumoto N,Kotani T,Sudo H,Yonezawa I,Uno K,Taneichi H,Watanabe K,Shigematsu H,Sugawara R,Taniguchi Y,Minami S,Nakamura M,Matsum

更新日期：2018-11-01 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:Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH , MBWNT , MBGroup 3 , and MBGroup 4 , representing the second most common type of pediatric brain cancer after high-grade gliomas. They suffer from a high prevalence of genetic predispositio...

journal_title：Molecular genetics & genomic medicine

authors： Tolonen JP,Hekkala A,Kuismin O,Tuominen H,Suo-Palosaari M,Tynninen O,Niinimäki R

更新日期：2020-09-01 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: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:Ankylosing spondylitis (AS) is the second most common cause of inflammatory arthritis worldwide affecting the axial skeleton. Single nucleotide polymorphisms (SNPs) of matrix metalloproteinase-3 (MMP3) in the development of AS has few been investigated in Chinese population. METHODS:A total of 362 patients ...

journal_title：Molecular genetics & genomic medicine

authors： Zhu Y,Li S,Huang Z,Xing W,Li F,Da Y,Xue J,Li M,Sun K,Jia H,Yang X

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem...

journal_title：Molecular genetics & genomic medicine

authors： de la Morena-Barrio ME,Sabater M,de la Morena-Barrio B,Ruhaak RL,Miñano A,Padilla J,Toderici M,Roldán V,Gimeno JR,Vicente V,Corral J

更新日期：2020-08-01 00:00:00

abstract：:Genetics and genomic medicine in Cuba. ...

journal_title：Molecular genetics & genomic medicine

authors： Roblejo Balbuena H,Marcheco Teruel B

更新日期：2017-05-21 00:00:00

abstract：BACKGROUND:Pre-mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence. Splicing is regulated by splicing regulatory elements (SREs) with both enhancer and suppressor functions. Variants located in exonic regions ...

journal_title：Molecular genetics & genomic medicine

authors： Katneni UK,Liss A,Holcomb D,Katagiri NH,Hunt R,Bar H,Ismail A,Komar AA,Kimchi-Sarfaty C

更新日期：2019-08-01 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：BACKGROUND:MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant nonsyndromic hearing loss. To date, only two missense variants located in the motor-head domain of MYO3A have been described in autosomal dominant families with progressive, mild-to-profound sensorineural h...

journal_title：Molecular genetics & genomic medicine

authors： Doll J,Hofrichter MAH,Bahena P,Heihoff A,Segebarth D,Müller T,Dittrich M,Haaf T,Vona B

更新日期：2020-08-01 00:00:00