A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

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: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: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: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:Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of such duplications on RB1CC1 expression has never been evaluated and partial gene d...

journal_title：Molecular genetics & genomic medicine

authors： Errichiello E,Giorda R,Gambale A,Iolascon A,Zuffardi O,Giglio S

更新日期：2020-12-19 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:Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the ER stress transducer OASIS are very rare and are only reported in pediatric patients...

journal_title：Molecular genetics & genomic medicine

authors： Cayami FK,Maugeri A,Treurniet S,Setijowati ED,Teunissen BP,Eekhoff EMW,Pals G,Faradz SM,Micha D

更新日期：2019-08-01 00:00:00

abstract：:Considering that variability in immune response genes has been associated with susceptibility to leprosy and with disease severity, leprosy presents clinicopathological variants that are highly associated with the immune response, HLA-G has a well-recognized role in the modulation of the immune response, and polymorph...

journal_title：Molecular genetics & genomic medicine

authors： Lucena-Silva N,Teixeira MA,Ramos Ade L,de Albuquerque RS,Diniz GT,Mendes-Junior CT,Castelli EC,Donadi EA

更新日期：2013-09-01 00:00:00

abstract：BACKGROUND:Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy repeats LCR22A to LCR22D. Atypical nested deletions and duplications are rarer and can provide a valuable opportunity to investigate the dosage effects of a smaller...

journal_title：Molecular genetics & genomic medicine

authors： Woodward KJ,Stampalia J,Vanyai H,Rijhumal H,Potts K,Taylor F,Peverall J,Grumball T,Sivamoorthy S,Alinejad-Rokny H,Wray J,Whitehouse A,Nagarajan L,Scurlock J,Afchani S,Edwards M,Murch A,Beilby J,Baynam G,Kiraly-Borri

更新日期：2019-02-01 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: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: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: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：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:Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid-hindbrain malformation called the "molar tooth sign" on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative gen...

journal_title：Molecular genetics & genomic medicine

authors： Luo M,Cao L,Cao Z,Ma S,Shen Y,Yang D,Lu C,Lin Z,Liu Z,Yu Y,Cai R,Chen C,Gao H,Wang X,Cao M,Ma X

更新日期：2019-12-01 00:00:00

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:The ECE1 gene polymorphisms have been studied as a candidate gene in essential hypertension, but no consensus has been reached. To systematically explore their possible association, a case-control study was conducted. METHODS:This study included 398 hypertensive subjects and 596 healthy volunteers as contro...

journal_title：Molecular genetics & genomic medicine

authors： Wang H,Liu J,Liu K,Liu Y,Wen J,Wang Z,Wen S

更新日期：2020-04-01 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：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: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：: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: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:A family with skeletal and craniofacial anomalies is presented. Whole-exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not include the hallmark joint dislocations typically observed in Larsen syndrome. METHODS:Patient consent for the sharing...

journal_title：Molecular genetics & genomic medicine

authors： Kodra N,Diamonstein C,Hauser NS

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1, GLP). EHMT1 (MIM# 607001) encodes a histone methyltransferase that heterodimerizes with EHMT2 (also known as G9a, MIM# 604599), which together are responsibl...

journal_title：Molecular genetics & genomic medicine

authors： Blackburn PR,Williams M,Cousin MA,Boczek NJ,Beek GJ,Lomberk GA,Urrutia RA,Babovic-Vuksanovic D,Klee EW

更新日期：2017-01-26 00:00:00

abstract：BACKGROUND:Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS:We present a patient with global de...

journal_title：Molecular genetics & genomic medicine

authors： Blackburn PR,Selcen D,Gass JM,Jackson JL,Macklin S,Cousin MA,Boczek NJ,Klee EW,Dimberg EL,Kennelly KD,Atwal PS

更新日期：2017-03-30 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: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: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: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

abstract：BACKGROUND:Submicroscopic chromosomal imbalance is associated with an increased nuchal translucency (NT). Most previous research has recommended the use of chromosomal microarray analysis (CMA) for prenatal diagnosis if the NT ≥ 3.5 mm. However, there is no current global consensus on the cutoff value for CMA. In this ...

journal_title：Molecular genetics & genomic medicine

authors： Su L,Huang H,An G,Cai M,Wu X,Li Y,Xie X,Lin Y,Wang M,Xu L

更新日期：2019-08-01 00:00:00