Results 21 to 30 of about 851,546 (305)

On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]

, 2012
The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia, De Caris, Laura, Tummala, Hemanth   +2 more
core   +4 more sources

PRENATAL DIAGNOSIS [PDF]

Romanian Journal of Pediatrics, 2009
Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present:
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source

Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting [PDF]

The Journal of Molecular Diagnostics, 2010
High-resolution melting analysis was applied to X-linked chronic granulomatous disease, a rare disorder resulting from mutations in CYBB. Melting curves of the 13 PCR products bracketing CYBB exons were predicted by Poland's algorithm and compared with observed curves from 96 normal individuals.
Harry R, Hill, Nancy H, Augustine, Robert J, Pryor, Gudrun H, Reed, Joshua D, Bagnato, Anne E, Tebo, Jeffrey M, Bender, Brian M, Pasi, Javier, Chinen, I Celine, Hanson, Martin, de Boer, Dirk, Roos, Carl T, Wittwer   +12 more
openaire   +2 more sources

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]

, 2014
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core   +1 more source

Zebrafish Models of Autosomal Dominant Ataxias

Cells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +1 more source

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

Computational and Structural Biotechnology Journal, 2020
ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders.
Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar   +7 more
doaj   +1 more source

Long noncoding RNA XIST: Mechanisms for X chromosome inactivation, roles in sex-biased diseases, and therapeutic opportunities

Genes and Diseases, 2022
Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of cancers, although the underlying mechanisms remain poorly understood.
Jianjian Li, Zhe Ming, Liuyi Yang, Tingxuan Wang, Gaowen Liu, Qing Ma   +5 more
doaj   +1 more source

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

Haematologica, 2007
All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c.
Melinda Erdos, Krisztina Alapi, László Maródi   +2 more
doaj   +1 more source

Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]

, 1998
Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Laan, Maris, Pääbo, Svante, Terwilliger, Joseph D., Zöllner, Sebastian   +3 more
core   +1 more source