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

abstract：BACKGROUND:Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39-1.73:100,000] according to clinical records and 1.09:100,000 [95% CI, 0.34-3.55:100,000] by neonatal screen...

journal_title：Molecular genetics & genomic medicine

authors： Weber Hoss GR,Sperb-Ludwig F,Schwartz IVD,Blom HJ

更新日期：2020-06-01 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：:The presence of body wall closing defects (abdominoschisis and thoracoabdominoschisis) in combination with other congenital malformations was studied in the pig (Sus scrofa domesticus). After clinical examination and literature review, body wall defects with multiple congenital anomalies in eight pigs were described, ...

journal_title：Molecular genetics & genomic medicine

authors： Martín-Alguacil N,Avedillo L

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Cervical cancer as one of the most common malignant tumors lead to bad prognosis among women. Some researches already focus on the carcinogenesis and pathogenesis of cervical cancer, but it is still necessary to identify more key genes and pathways. METHODS:Differentially expressed genes were identified by ...

journal_title：Molecular genetics & genomic medicine

authors： Yang HJ,Xue JM,Li J,Wan LH,Zhu YX

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by ...

journal_title：Molecular genetics & genomic medicine

authors： Salinas-Torres VM,Gallardo-Blanco HL,Salinas-Torres RA,Cerda-Flores RM,Lugo-Trampe JJ,Villarreal-Martínez DZ,Ibarra-Ramírez M,Martínez de Villarreal LE

更新日期：2020-05-01 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：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: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：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：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:Obesity has become the main health issue in developed countries as it impacts life expectancy and increases mortality of cerebrovascular or cardiovascular diseases. The leptin is one of the adipokines which presents in the serum in proportion to the amount of adipose tissue and is translated from LEP gene. I...

journal_title：Molecular genetics & genomic medicine

authors： Duan DM,Jhang JY,Wu S,Teng MS,Hsu LA,Ko YL

更新日期：2020-03-01 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: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:Achondroplasia (ACH), the most common form of short-limbed skeletal dysplasia, is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G380R mutation in the FGFR3 gene. We present here a child who had two de novo ...

journal_title：Molecular genetics & genomic medicine

authors： Nagata T,Matsushita M,Mishima K,Kamiya Y,Kato K,Toyama M,Ogi T,Ishiguro N,Kitoh H

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:Wieacker-Wolff syndrome (WWS) is a congenital X-linked neuromuscular disorder, which was firstly reported in 1985. Zinc finger C4H2-type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis. However, the underlying mechanism remains elusive. METHODS:Whole-exome sequencing wa...

journal_title：Molecular genetics & genomic medicine

authors： Wang D,Hu D,Guo Z,Hu R,Wang Q,Liu Y,Liu M,Meng Z,Yang H,Zhang Y,Cai F,Zhou W,Song W

更新日期：2020-02-01 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: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:Spinal neurofibromatosis (SNF) is a related form of Neurofibromatosis type 1 (NF1) with a low incidence. Here, we report a SNF patient with NF1 (OMIM *613113) mutation in a classic NF1 family to enrich the case data. METHODS:We presented the clinical data of a 27-year-old female suffered from SNF. Two NF1 i...

journal_title：Molecular genetics & genomic medicine

authors： Ning Z,Yang Z,Chen G,Wu W,He L,Sun Y,Cai D,Zhang W

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:C-Jun and EGFR have not been explored as targets via the mechanism of RNA silencing. Hence, this study designed an efficient C-Jun-h-825 small interfering RNA (siRNA) and investigated its effect on matrix metalloproteinase (MMP) and collagen expression in human keratinocytes exposed to UV radiation. METHODS...

journal_title：Molecular genetics & genomic medicine

authors： Xiao H,Yang R,Yang F,Zhao Y,Liu Y

更新日期：2020-01-01 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: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:Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low-penetrance variants are also known. Rb survivors are at risk of second primary malignancies (SPMs), mostly osteosar...

journal_title：Molecular genetics & genomic medicine

authors： Imbert-Bouteille M,Gauthier-Villars M,Leroux D,Meunier I,Aerts I,Lumbroso-Le Rouic L,Lejeune S,Delnatte C,Abadie C,Pujol P,Houdayer C,Corsini C

更新日期：2019-12-01 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: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 dreadful prognosis of nonmuscle invasive bladder cancer mainly results from the delay in recognition of individuals with a high risk of progression. Thus, the emphasis of this work lies in developing valuable biomarkers that is conducive to accurately predicting the progression of NMIBC. METHODS:Microar...

journal_title：Molecular genetics & genomic medicine

authors： Shi J,Zhang P,Liu L,Min X,Xiao Y

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND:Apolipoprotein E (ApoE) is a glycoprotein that plays an important role in lipid homeostasis at both cerebral and systemic levels. Moreover, the differential distribution of APOE gene alleles among different populations, means that ApoE isoforms could have different effects on lipids metabolism. The present s...

journal_title：Molecular genetics & genomic medicine

authors： Martínez-Magaña JJ,Genis-Mendoza AD,Tovilla-Zarate CA,González-Castro TB,Juárez-Rojop IE,Hernández-Díaz Y,Martinez-Hernandez AG,Garcia-Ortíz H,Orozco L,López-Narvaez ML,Nicolini H

更新日期：2019-11-01 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：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: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:The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations. METHODS:We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3. RESULTS:Amo...

journal_title：Molecular genetics & genomic medicine

authors： Di Stolfo G,Accadia M,Mastroianno S,Leone MP,Palumbo O,Palumbo P,Potenza D,Maccarone P,Sacco M,Russo A,Carella M

更新日期：2019-09-01 00:00:00

abstract：BACKGROUND:Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a novel de novo mutation ...

journal_title：Molecular genetics & genomic medicine

authors： Xiong Q,Li W,Li P,Zhao Z,Wu C,Xiao H

更新日期：2019-09-01 00:00:00

abstract：BACKGROUND:It has been proposed that lncRNAs, widely transcribed from genomes, play pivotal regulatory roles in a variety of biological processes, but their function in regulating spermatogenesis in human males is rarely reported. METHODS:QRT-PCR was adopted to detect HOTTIP expression level in testicular tissues from...

journal_title：Molecular genetics & genomic medicine

authors： Su Y,Zhou LL,Zhang YQ,Ni LY

更新日期：2019-09-01 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

abstract：BACKGROUND:Tuberculosis (TB) is a significant worldwide health problem, and is caused by Mycobacteria tuberculosis. Recent studies have suggested that FOXO3 plays vital roles in the risk of immune-related infectious diseases such as TB. METHODS AND RESULTS:The present study aimed to evaluate FOXO3 genetic variants and...

journal_title：Molecular genetics & genomic medicine

authors： Wang B,Wang Y,Wang L,He X,He Y,Bai M,Zhu L,Zheng J,Yuan D,Jin T

更新日期：2019-08-01 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：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: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：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