Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study
Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Dis... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 22, 2020 Category: Genetics & Stem Cells Authors: Srijana Adhikari, Neelam Thakur, Ujjowala Shrestha, Mohan K Shrestha, Murarai Manshrestha, Bijay Thapa, Manish Poudel and Ajaya Kunwar Tags: Research article Source Type: research
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalon... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 21, 2020 Category: Genetics & Stem Cells Authors: Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu and Xu-Qin Chen Tags: Case report Source Type: research
Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis
Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 21, 2020 Category: Genetics & Stem Cells Authors: Hel éne Lindholm, India Morrison, Alexandra Krettek, Dan Malm, Giovanni Novembre and Linda Handlin Tags: Research article Source Type: research
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and sp... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 17, 2020 Category: Genetics & Stem Cells Authors: Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Fr édéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram and Arash Rafii Tags: Case report Source Type: research
Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer ’s disease
The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer ’s disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic va... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 12, 2020 Category: Genetics & Stem Cells Authors: Xi-chen Zhu, Wen-zhuo Dai and Tao Ma Tags: Research article Source Type: research
Increased cardiovascular mortality in females with the a/a genotype of the SNPs rs1478604 and rs2228262 of thrombospondin-1
Cardiovascular diseases are still the major cause of death in the Western world, with different outcomes between the two genders. Efforts to identify those at risk are therefore given priority in the handling ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 11, 2020 Category: Genetics & Stem Cells Authors: Urban Alehagen, Levar Shamoun and Dick W ågsäter Tags: Research article Source Type: research
A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 11, 2020 Category: Genetics & Stem Cells Authors: Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang and Jing Li Tags: Case report Source Type: research
Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study
A Genetic risk score for coronary artery disease (CAD) improves the ability of predicting coronary heart disease (CHD). It is unclear whether i) the use of a CAD genetic risk score is superior to the measureme... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 10, 2020 Category: Genetics & Stem Cells Authors: Sonali Pechlivanis, Nils Lehmann, Per Hoffmann, Markus M. N öthen, Karl-Heinz Jöckel, Raimund Erbel and Susanne Moebus Tags: Research article Source Type: research
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 4, 2020 Category: Genetics & Stem Cells Authors: Tawfiq Froukh, Ammar Hawwari and Khalid Al Zubi Tags: Research article Source Type: research
A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report
Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder that is commonly due to mutations in the FXIIIA subunit gene (F13A1), and it has been reported to have a prevalence of one per 2 million. W... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 3, 2020 Category: Genetics & Stem Cells Authors: Ruimin Cai, Yi Li, Wenyang Wang and Qiang Feng Tags: Case report Source Type: research
A very early diagnosis of Alstr ӧm syndrome by next generation sequencing
Alstr öm syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hea... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 1, 2020 Category: Genetics & Stem Cells Authors: Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podrack á, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo and Matteo Bertelli Tags: Case report Source Type: research
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 25, 2020 Category: Genetics & Stem Cells Authors: Ali Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad, Abdul Rafay Khan, Humaira Najma, Aiysha Abid and Shagufta Khaliq Tags: Research article Source Type: research
Mutant POLQ and POLZ/REV3L DNA polymerases may contribute to the favorable survival of patients with tumors with POLE mutations outside the exonuclease domain
Mutations in the exonuclease domain of POLE, a DNA polymerase associated with DNA replication and repair, lead to cancers with ultra-high mutation rates. Most studies focus on intestinal and uterine cancers wi... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 24, 2020 Category: Genetics & Stem Cells Authors: Fangjin Huang, Hisashi Tanaka, Beatrice S. Knudsen and Joanne K. Rutgers Tags: Research article Source Type: research
Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome
Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 24, 2020 Category: Genetics & Stem Cells Authors: Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir and Hong Qing Tags: Research article Source Type: research
Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS i... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 24, 2020 Category: Genetics & Stem Cells Authors: Soraya Gholizad-kolveiri, Nakysa Hooman, Rasoul Alizadeh, Rozita Hoseini, Hasan Otukesh, Saeed Talebi and Mansoureh Akouchekian Tags: Case report Source Type: research
