A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

abstract：OBJECTIVES:This study aimed to investigate and confirm the association between 15 single nucleotide polymorphisms of four susceptibility genes (NBS1, TP53, PTEN, and BRIP1) and the susceptibility of breast cancer. METHODS:The genome DNA was extracted from peripheral blood and tumor tissues from one hundred and sevente...

journal_title：Molecular genetics & genomic medicine

authors： Li X,Li Z,Yang M,Luo Y,Hu L,Xiao Z,Huang A,Huang J

更新日期：2021-01-05 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：BACKGROUND:Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers-Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60-80 min and an additional 45 min for the check-in and checkout process. We propose a mode...

journal_title：Molecular genetics & genomic medicine

authors： Prakash P,Eble TN,Dhar SU

更新日期：2018-11-01 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: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:HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is usually first suspected on finding elevated isoleucine degradation metabolites in ...

journal_title：Molecular genetics & genomic medicine

authors： Waters PJ,Lace B,Buhas D,Gravel S,Cyr D,Boucher RM,Bernard G,Lévesque S,Maranda B

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: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：: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:Disordered inflammation and immune response is an acknowledged risk factor for cervical cancer development. Interleukin-1 receptor type 2 (IL1R2) is a decoy receptor for IL-1 cytokines and involved in host inflammatory and immune progression which could lead to the lesion and neoplasia of cervix. In this stu...

journal_title：Molecular genetics & genomic medicine

authors： Niu F,Wang T,Li J,Yan M,Li D,Li B,Jin T

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:Lead (Pb) is broadly used in various industries and causes irreversible damage to human tissues, organs, and systems. Studies have revealed that lead exerts toxic effects via interfering with calcium channel. METHODS:In the present study, we investigated whether single nucleotide polymorphisms (SNPs) in TRP...

journal_title：Molecular genetics & genomic medicine

authors： Liu J,Zhang L,Feng L,Xu M,Gao Y,Zhou P,Yu Z,Zhu B,An Y,Zhang H

更新日期：2019-03-01 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：: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:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI incl...

journal_title：Molecular genetics & genomic medicine

authors： Li L,Liu W,Xu Y,Li M,Tang Q,Yu B,Cai R,Liu S

更新日期：2020-02-01 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：:Single mutations in the ATP-binding cassette transporter (ABCC6) gene (OMIM 603234) are known to cause the rare autosomal recessive disease pseudoxanthoma elasticum (PXE). Recently, we have found that copy number variations (CNVs) in pseudogenes of the ABCC6 gene are quite common. The aim of this study was to investig...

journal_title：Molecular genetics & genomic medicine

authors： Kringen MK,Stormo C,Berg JP,Terry SF,Vocke CM,Rizvi S,Hendig D,Piehler AP

更新日期：2015-05-01 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: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:Alcohol-induced osteonecrosis of femoral head (ONFH) is a complex disease and genetic factors are one of the causes. The purpose of this study is to investigate the effects of RETN (resistin; OMIM: 605565) and LDLR (low density lipoprotein receptor; OMIM: 606945) polymorphisms on the risk of alcohol-induced ...

journal_title：Molecular genetics & genomic medicine

authors： Liu C,An F,Cao Y,Wang J,Tian Y,Wu H,Wang J

更新日期：2019-08-01 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:Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant synd...

journal_title：Molecular genetics & genomic medicine

authors： Pode-Shakked N,Barel O,Pode-Shakked B,Eliyahu A,Singer A,Nayshool O,Kol N,Raas-Rothschild A,Pras E,Shohat M

更新日期：2019-06-01 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 hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12-associated HPA is a rare in Chinese population so far. METHODS:The clinical information and blood samples from the patient and his family members were collected and an...

journal_title：Molecular genetics & genomic medicine

authors： Li M,Yang Q,Yi S,Qin Z,Luo J,Fan X

更新日期：2020-08-01 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：: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：: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: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: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: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