The role of FOXO3 polymorphisms in susceptibility to tuberculosis in a Chinese population.

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: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：: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：PURPOSE:To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. METHODS:We retrospectively analyzed genomic test...

journal_title：Molecular genetics & genomic medicine

authors： Davis KW,Hamby Erby L,Fiallos K,Martin M,Wassman ER

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of GCK homozygous mutations causing mild hyperglycemia have been so far described. We here report a novel GCK mutation (c.11...

journal_title：Molecular genetics & genomic medicine

authors： Marucci A,Biagini T,Di Paola R,Menzaghi C,Fini G,Castellana S,Cardinale GM,Mazza T,Trischitta V

更新日期：2019-07-01 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 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：:Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization o...

journal_title：Molecular genetics & genomic medicine

authors： Falik Zaccai TC,Kalfon L,Klar A,Elisha MB,Hurvitz H,Weingarten G,Chechik E,Fleisher Sheffer V,Haj Yahya R,Meidan G,Gross-Kieselstein E,Bauman D,Hershkovitz S,Yaron Y,Orr-Urtreger A,Wertheimer E

更新日期：2014-01-01 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: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：: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:TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individua...

journal_title：Molecular genetics & genomic medicine

authors： Hiraide T,Watanabe S,Matsubayashi T,Yanagi K,Nakashima M,Ogata T,Saitsu H

更新日期：2020-03-01 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：: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: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 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:Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco-abdominal organs in the left-right axis and is associated with cardiovascular malformations. Mutations within DNAH11 can be associated with primary ciliary dyskinesia and heterotaxy syndromes. METHODS:We report a family...

journal_title：Molecular genetics & genomic medicine

authors： Namavarian A,Eid A,Goh ES,Thakur V

更新日期：2020-09-01 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:Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not alway...

journal_title：Molecular genetics & genomic medicine

authors： Cope H,Spillmann R,Rosenfeld JA,Brokamp E,Signer R,Schoch K,Kelley EG,Sullivan JA,Macnamara E,Lincoln S,Golden-Grant K,Undiagnosed Diseases Network.,Orengo JP,Clark G,Burrage LC,Posey JE,Punetha J,Robertson A,Cogan J

更新日期：2020-10-01 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：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: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: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：BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the genetic factors associated with preeclampsia in Africa in general and in Sudan in specific. METHODS:A case-control study (60 women in each arm) was conducted at Saad Abualila Hospital in Khartoum, Sudan, from Marc...

journal_title：Molecular genetics & genomic medicine

authors： Hamid HM,Abdalla SE,Sidig M,Adam I,Hamdan HZ

更新日期：2020-03-01 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: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:Studies evaluating next-generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India). METHODS:This retrospective study of 131 patients who underwent clinically val...

journal_title：Molecular genetics & genomic medicine

authors： Yohe S,Sivasankar M,Ghosh A,Ghosh A,Holle J,Murugan S,Gupta R,Schimmenti LA,Vedam R,Thyagarajan B

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in COL1A1 (17q21.33) or COL1A2 (7q21.3) resulting in quantitative or qualitative defects in type I collagen, a...

journal_title：Molecular genetics & genomic medicine

authors： Numbere N,Weber DR,Porter G Jr,Iqbal MA

更新日期：2020-06-01 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:22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported. METHODS:Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridization (FISH) were perfor...

journal_title：Molecular genetics & genomic medicine

authors： Chen W,Li X,Sun L,Sheng W,Huang G

更新日期：2019-08-01 00:00:00