The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

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: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:Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have...

journal_title：Molecular genetics & genomic medicine

authors： Cabanillas R,Diñeiro M,Castillo D,Pruneda PC,Penas C,Cifuentes GA,de Vicente Á,Durán NS,Álvarez R,Ordóñez GR,Cadiñanos J

更新日期：2017-04-23 00:00:00

abstract：BACKGROUND:The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a "Systematic Survey of Balanced Chromosomal Rearrangements in Finns." In the first family, carriers...

journal_title：Molecular genetics & genomic medicine

authors： Luukkonen TM,Mehrjouy MM,Pöyhönen M,Anttonen AK,Lahermo P,Ellonen P,Paulin L,Tommerup N,Palotie A,Varilo T

更新日期：2018-01-01 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: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: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: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: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：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:Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease-causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched-chain α-keto acid dehydrogenase (BCKDH) complex. In the present study, nov...

journal_title：Molecular genetics & genomic medicine

authors： Nguyen TTN,Vu CD,Nguyen NL,Nguyen TTH,Nguyen NK,Nguyen HH

更新日期：2020-08-01 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: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: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: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:DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cance...

journal_title：Molecular genetics & genomic medicine

authors： Kamiza AB,Hsieh LL,Tang R,Chien HT,Lai CH,Chiu LL,Lo TP,Hung KY,You JF,Wang WC,Hsiung CA,Yeh CC

更新日期：2018-04-17 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：: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：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: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: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: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:Neural tube defects (NTDs) are severe congenital malformations. Diabetes during pregnancy is a risk factor for NTDs, but its mechanism remains elusive. Emerging evidence suggests that protein malonylation is involved in diabetes. Here, we report the correlation between histone lysine malonylation in diabetes...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Q,Cai T,Xiao Z,Li D,Wan C,Cui X,Bai B

更新日期：2020-09-01 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: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:Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiq...

journal_title：Molecular genetics & genomic medicine

authors： Li B,Zhou T,Zou Y

更新日期：2015-12-12 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: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:Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even ...

journal_title：Molecular genetics & genomic medicine

authors： Wang D,Liang S,Zhang X,Dey SK,Li Y,Xu C,Yu Y,Li M,Zhao G,Zhang Z

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:β3-αC loop is a highly conserved structural domain across oncogene families, which is a switch for kinase activity. There have been numerous researches on mutations within β3-αC loop in EGFR, but relatively less in ERBB2, BRAF, and MAP2K1. In addition, previous studies mainly focus on β3-αC deletion in EGFR,...

journal_title：Molecular genetics & genomic medicine

authors： Zhang B,Chen Y,Dai P,Yu H,Ma J,Chen C,Zhang Y,Guan Y,Chen R,Liu T,Wang J,Yang L,Yi X,Xia X,Ma H

更新日期：2020-10-01 00:00:00