Results 101 to 110 of about 838,531 (316)

Deletions Revealing Recessive Genes: Deletions that reveal recessive genes [PDF]

European Journal of Human Genetics, 2007
Coman, David J., Gardner, R.J. McKinlay
openaire   +2 more sources

Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment

, 2015
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury, Paracchini, Silvia, Emily Reeves, Charles Hulme, Pettigrew, Kerry A., Hayiou-Thomas, Marianna E., Margaret J Snowling, Simpson, Nuala H., Thompson, Paul A., Paul Thompson, Margaret J. Snowling (782135), Marianna E Hayiou-Thomas, Marianna E. Hayiou-Thomas (782131), Nuala H Simpson, Anahita Sharma, Angela Martinelli (782133), Thompson, Paul; id_orcid, Thompson, Paul, Hulme, Charles, Charles Hulme (782134), Snowling, Margaret J., Ruth Leavett, Silvia Paracchini, Kerry A. Pettigrew (782128), Anahita Sharma (782132), Silvia Paracchini (238619), Emily Reeves (782129), Kerry A Pettigrew, Angela Martinelli, Martinelli, Angela, Newbury, Dianne F., Sharma, Anahita, Ruth Leavett (782130), Dianne F. Newbury (297003), Leavett, Ruth, Paul Thompson (515751), Reeves, Emily, Nuala H. Simpson (703485)   +37 more
core   +1 more source

Bovine polledness [PDF]

, 2012
The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for
Seichter, Doris, Krebs, Stefan, Blum, Helmut, Göpel, Karl Heinrich, Rothammer, Sophie, Förster, Martin, Medugorac, Ivica, Russ, Ingolf, Graf, Alexander   +8 more
core   +1 more source

Stimulator of interferon genes agonist augmented antitumor immunity of osimertinib in Egfr‐mutated lung cancer

Molecular Oncology, EarlyView.
Combining osimertinib with the STING agonist ADU‐S100 activates innate and adaptive immunity to overcome the non‐inflamed microenvironment of Egfr‐mutant lung cancer. This combination increases NK and CD8+ T‐cell infiltration, associated with activation of the STING‐IRF3 pathway and local immunogenic cell death.
Jun Nishimura, Tadahiro Kuribayashi, Johannes Brägelmann, Sachi Okawa, Masataka Taoka, Shunta Mori, Tomoka Nishimura, Takaaki Tanaka, Go Makimoto, Kiichiro Ninomiya, Kammei Rai, Eiki Ichihara, Ryohei Katayama, Katsuyuki Hotta, Masahiro Tabata, Yosuke Togashi, Yoshinobu Maeda, Martin L. Sos, Katsuyuki Kiura, Kadoaki Ohashi   +19 more
wiley   +1 more source

DNA methylation analysis of the angiotensin converting enzyme (ACE) gene in major depression. [PDF]

, 2012
The angiotensin converting enzyme (ACE) has been repeatedly discussed as susceptibility factor for major depression (MD) and the bi-directional relation between MD and cardiovascular disorders (CVD).
Eisenmenger, Wolfgang, Bondy, Brigitta, Mazza, Marianna, Zill, Peter, Clemens Früstück, Brigitta Bondy, Büttner, Andreas, Born, Christoph, Peter Zill, Andreas Büttner, Varallo-Bedarida, Gabriella, Cornelius Schüle, Früstück, Clemens, Rupprecht, Rainer, Möller, Hans-Jürgen, Schüle, Cornelius, Baghai, Thomas C., Wolfgang Eisenmenger, Christoph Born, Rainer Rupprecht, Hans-Jürgen Möller, Thomas C Baghai, Gabriella Varallo-Bedarida   +22 more
core   +1 more source

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source

Deletion of PLCB1 gene in schizophrenia affected patients

Journal of Cellular and Molecular Medicine, 2011
AbstractA prevalence of 1% in the general population and approximately 50% concordance rate in monozygotic twins was reported for schizophrenia, suggesting that genetic predisposition affecting neurodevelopmental processes might combine with environmental risk factors. A multitude of pathways seems to be involved in the aetiology and/or pathogenesis of
V. LO VASCO, CARDINALE G, POLONIA P
openaire   +4 more sources

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Investigation of the Relationship between Genetic Polymorphisms in GSTM1 and GSTT1 Genes and Susceptibility to Lung Functional Abnormalities in Workers Exposed to Air Pollutants at Isfahan Steel Plant

Journal of Environmental Health and Sustainable Development, 2022
Introduction: Gaseous air pollutants can cause oxidative stress, which can lead to lung damage by inducing inflammation. Polymorphisms in the glutathione S-transferase (GST) gene are involved in the pathogenesis of many diseases, including lung disease ...
Sepideh Tousizadeh, Mansour Salehi, Fazel Mohammadi-Moghadam, Behnaz Tousizadeh, Sara Hemati   +4 more
doaj  

An essential role of KREPB4 in RNA editing and structural integrity of the editosome in Trypanosoma brucei [PDF]

, 2007
RNA editing in the sleeping sickness parasite Trypanosoma brucei remodels mitochondrial transcripts by the addition and deletion of uridylates as specified by guide RNAs.
Schnaufer, Achim; id_orcid, Stuart, Kenneth, Ernst, Nancy Lewis, Fleck, Michele, Babbarwal, Vinod Kumar   +4 more
core   +1 more source