Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

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: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:Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of penetrance and expressivity have been difficult to obtain. We here describe a large pedigree, from which such estimates have been calculated. ...

journal_title：Molecular genetics & genomic medicine

authors： Gardner RJM,Crozier IG,Binfield AL,Love DR,Lehnert K,Gibson K,Lintott CJ,Snell RG,Jacobsen JC,Jones PP,Waddell-Smith KE,Kennedy MA,Skinner JR

更新日期：2019-01-01 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: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: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: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：:Medical genetics and genomic medicine in Turkey: a bright future at a new era in life sciences. ...

journal_title：Molecular genetics & genomic medicine

authors： Özçelik T

更新日期：2017-09-03 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: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:To identify potential causative mutations in SLC2A9 and SLC22A12 that lead to hypouricemia or hyperuricemia (HUA). METHODS:Targeted resequencing of whole exon regions of SLC2A9 and SLC22A12 was performed in three cohorts of 31 hypouricemia, 288 HUA and 280 normal controls. RESULTS:A total of 84 high-qualit...

journal_title：Molecular genetics & genomic medicine

authors： Zhou Z,Wang K,Zhou J,Wang C,Li X,Cui L,Han L,Liu Z,Ren W,Wang X,Zhang K,Li Z,Pan D,Li C,Shi Y

更新日期：2019-07-01 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:p.Ser43Asn is a very rare transthyretin (TTR) mutation leading to familial amyloidosis of transthyretin type, ATTR amyloidosis. It was previously observed in four patients worldwide and is associated almost invariably with an isolated cardiac phenotype. METHODS AND RESULTS:We report here on an Italian famil...

journal_title：Molecular genetics & genomic medicine

authors： Papathanasiou M,Carpinteiro A,Kersting D,Jakstaite AM,Hagenacker T,Schlosser TW,Rischpler C,Rassaf T,Luedike P

更新日期：2020-12-20 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: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: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：: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:Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly-Xaa-Yaa amino acid sequence repeat region of the molecule, mRNA m...

journal_title：Molecular genetics & genomic medicine

authors： Nixon T,Richards AJ,Lomas A,Abbs S,Vasudevan P,McNinch A,Alexander P,Snead MP

更新日期：2020-09-01 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：: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：: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:Truncation FAM83H mutations cause human autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), an inherited disorder characterized by severe hardness defects in dental enamel. No enamel defects were observed in Fam83h null mice suggesting that Fam83h truncation mice would better replicate human m...

journal_title：Molecular genetics & genomic medicine

authors： Wang SK,Hu Y,Smith CE,Yang J,Zeng C,Kim JW,Hu JC,Simmer JP

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Incontinentia pigmenti (IP) is a rare X-linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low-level mosaicism existed in the remaining...

journal_title：Molecular genetics & genomic medicine

authors： Kawai M,Kato T,Tsutsumi M,Shinkai Y,Inagaki H,Kurahashi H

更新日期：2020-12-01 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：:Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas class...

journal_title：Molecular genetics & genomic medicine

authors： Coelho AI,Trabuco M,Ramos R,Silva MJ,Tavares de Almeida I,Leandro P,Rivera I,Vicente JB

更新日期：2014-11-01 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:General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS:We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. R...

journal_title：Molecular genetics & genomic medicine

authors： Vande Perre P,Toledano D,Corsini C,Escriba E,Laporte M,Bertet H,Yauy K,Toledano A,Galibert V,Baudry K,Clotet L,Million E,Picot MC,Geneviève D,Pujol P

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem...

journal_title：Molecular genetics & genomic medicine

authors： de la Morena-Barrio ME,Sabater M,de la Morena-Barrio B,Ruhaak RL,Miñano A,Padilla J,Toderici M,Roldán V,Gimeno JR,Vicente V,Corral J

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). METHODS:We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation-dependent Probe Amplifica...

journal_title：Molecular genetics & genomic medicine

authors： Souzeau E,Dubowsky A,Ruddle JB,Craig JE

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y-aminobutyric acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous system. It regulates activity...

journal_title：Molecular genetics & genomic medicine

authors： Markus F,Angelini C,Trimouille A,Rudolf G,Lesca G,Goizet C,Lasseaux E,Arveiler B,van Slegtenhorst M,Brooks AS,Abou Jamra R,Korenke GC,Neidhardt J,Owczarek-Lipska M

更新日期：2020-09-01 00:00:00