Association between APOE polymorphisms and lipid profile in Mexican Amerindian population.

abstract：BACKGROUND:The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing. However, due to the sequential nature of this methodology and inconsisten...

journal_title：Molecular genetics & genomic medicine

authors： Gheldof A,Seneca S,Stouffs K,Lissens W,Jansen A,Laeremans H,Verloo P,Schoonjans AS,Meuwissen M,Barca D,Martens G,De Meirleir L

更新日期：2019-02-01 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: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:With the availability of raw DNA generated from direct-to-consumer (DTC) testing companies, there has been a proliferation of third-party online services that are available to interpret the raw data for both genealogy and/or health purposes. This study examines the current landscape and downstream clinical i...

journal_title：Molecular genetics & genomic medicine

authors： Wang C,Cahill TJ,Parlato A,Wertz B,Zhong Q,Cunningham TN,Cummings JJ

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:To search for new prevention markers for early detection of the diseases caused by tobacco, we aimed to investigate the polymorphisms in TSLP and TSLPRs associated with cigarette smoking in the Saudi population. MATERIALS AND METHODS:Samples were collected from 177 smokers and 126 healthy controls. Three TS...

journal_title：Molecular genetics & genomic medicine

authors： Semlali A,Almutairi M,Azzi A,Reddy Parine N,AlAmri A,Alsulami S,Meshal Alumri T,Saud Alanazi M,Rouabhia M

更新日期：2019-08-01 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:Kidney renal clear cell carcinoma (KIRC) is the most common subtype of renal tumor. However, the molecular mechanisms of KIRC pathogenesis remain little known. The purpose of our study was to identify potential key genes related to the occurrence and prognosis of KIRC, which could serve as novel diagnostic a...

journal_title：Molecular genetics & genomic medicine

authors： Zhang B,Wu Q,Wang Z,Xu R,Hu X,Sun Y,Wang Q,Ju F,Ren S,Zhang C,Qin L,Ma Q,Zhou YL

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Polycystic kidney disease (PKD) is the most common hereditary kidney disease. The main mutational genes causing autosomal dominant polycystic kidney disease (ADPKD) are PKD1 and PKD2 as well as some rare pathogenic genes. Unilateral PKD is rare in clinics, and its association with gene mutations is unclear. ...

journal_title：Molecular genetics & genomic medicine

authors： Wang T,Li Q,Shang S,Geng G,Xie Y,Cai G,Chen X

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin-specific volumetric expansion...

journal_title：Molecular genetics & genomic medicine

authors： Rasool S,Baig JM,Moawia A,Ahmad I,Iqbal M,Waseem SS,Asif M,Abdullah U,Makhdoom EUH,Kaygusuz E,Zakaria M,Ramzan S,Haque SU,Mir A,Anjum I,Fiaz M,Ali Z,Tariq M,Saba N,Hussain W,Budde B,Irshad S,Noegel AA,Höning

更新日期：2020-09-01 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: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: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:Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of...

journal_title：Molecular genetics & genomic medicine

authors： Radio FC,Di Meglio L,Agolini E,Bellacchio E,Rinelli M,Toscano P,Boldrini R,Novelli A,Di Meglio A,Dallapiccola B

更新日期：2018-05-01 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: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: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: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：:Definitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early in the diagnostic wo...

journal_title：Molecular genetics & genomic medicine

authors： Williams EL,Bagg EA,Mueller M,Vandrovcova J,Aitman TJ,Rumsby G

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:Multiple myeloma (MM) is a disease characterized by heterogeneous clinical presentations as well as complex genetic and molecular abnormalities. In MM, cytogenetic analysis is a challenge because of the low proliferation of malignant plasma cells. Thus, interphase fluorescence in situ hybridization (FISH), p...

journal_title：Molecular genetics & genomic medicine

authors： Hamdaoui H,Benlarroubia O,Ait Boujmia OK,Mossafa H,Ouldim K,Belkhayat A,Smyej I,Benrahma H,Dehbi H,Chegdani F

更新日期：2020-09-01 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: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：: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:The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervo...

journal_title：Molecular genetics & genomic medicine

authors： Ferreira F,Azevedo L,Neiva R,Sousa C,Fonseca H,Marcão A,Rocha H,Carmona C,Ramos S,Bandeira A,Martins E,Campos T,Rodrigues E,Garcia P,Diogo L,Ferreira AC,Sequeira S,Silva F,Rodrigues L,Gaspar A,Janeiro P,Amorim A

更新日期：2021-01-19 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: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: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：: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：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: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: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