Results 51 to 60 of about 1,474 (144)

Identifying mRNA targets of microRNA dysregulated in cancer: with application to clear cell Renal Cell Carcinoma [PDF]

, 2010
BACKGROUND. MicroRNA regulate mRNA levels in a tissue specific way, either by inducing degradation of the transcript or by inhibiting translation or transcription.
Alexe, Gabriela, Arreola, Alexandra, Bhanot, Gyan V., Brannon, Angela R., Ganesan, Shridar, Juan, David, Levine, Arnold J., Liou, Louis S., Liu, Huiqing, Oza, Jay H., Rathmell, W. K., Reddy, Anupama R., Seiler, Michael W., Yao, Ming   +13 more
core   +4 more sources

KCNJ16 associated Hypokalaemic Tubulopathy and Deafness presenting with Sudden Cardiac Arrest.

, 2023
Abstract Inwardly rectifying potassium channels (Kir) allow potassium (K+) to easily move into cells. They are implicated in several diverse physiological processes throughout the body. KCNJ16 associated tubulopathy and deafness affects a subset of Kir transport channels.
Deirdre O' Sullivan, Nicola Walsh, Maria Stack, Andrew Green, Atif Awan   +4 more
openaire   +1 more source

Repeated Seizure Exposure in the SS ^{Kcnj16‐/‐} Rat Causes Progressive Respiratory Suppression and Associated Brainstem Pathology

The FASEB Journal, 2021
K ir 5.1 is an inwardly rectifying potassium (K ir ) channel subunit highly expressed in the kidney and brain and encoded by the Kcnj16 gene. Knockout of Kcnj16 in a Dahl salt‐sensitive rat (SS
Anna Manis, Erin Duffy, Denise Cook‐Snyder, Alexander Staruschenko, Matthew Hodges   +4 more
openaire   +1 more source

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source

The first whole genome and transcriptome of the cinereous vulture reveals adaptation in the gastric and immune defense systems and possible convergent evolution between the Old and New World vultures [PDF]

, 2015
Background: The cinereous vulture, Aegypius monachus, is the largest bird of prey and plays a key role in the ecosystem by removing carcasses, thus preventing the spread of diseases. Its feeding habits force it to cope with constant exposure to pathogens,
A Goncalves, A Löytynoja, A Mortazavi, Alvin Chon, Andrea Manica, B Eliotout, B Li, B Li, BJ Haas, CG Sibley, D Kim, DD Pollock, DL Ogada, DW Huang, E Quevillon, E Trompouki, E Videvall, ED Jarvis, F Ikeda, G Marçais, G Pertea, G Takaesu, G Zhang, GD Ruxton, GE Duke, GJ Krejs, H Li, H Li, H Li, Hak-Min Kim, HS Yim, HY Song, HyeJin Lee, Hyunho Kim, IA Adzhubei, International Chicken Genome Sequencing Consortium, J Ferguson-Lees, J Hoyo del, J Parra, J Puente de la, J Wang, J Xu, J Ye, J Zhang, JeHoon Jun, Jeongheui Lim, Jeremy Edwards, Jessica A. Weber, JG Teodoro, JM Lastra de la, Jong Bhak, Junsu Ko, K Arnold, K Tamura, Kyudong Han, M Kanehisa, M Loiarro, M Roggenbuck, M Tariq, M Wink, MD Robinson, MD Robinson, MG Grabherr, NIBR (National Institute of Biological Resources), Oksung Chung, P Vijayakumar, R Medzhitov, R Nielsen, RA Dalloul, RA Goldstein, S Anders, S Sharma, Seondeok Jin, SF Altschul, Stephen J. O’Brien, Sungwoong Jho, T Schwede, T Yamazaki, W He, W Miller, WC Warren, Woon Kee Paek, X Ma, X Zhan, Y Choi, Y Huang, Y Moriya, YS Cho, Yun Sung Cho, Z Yang, Z Yang   +90 more
core   +2 more sources

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

BMC Medical Genetics, 2012
Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three ...
Bouhouche Ahmed, Benomar Ali, Errguig Leila, Lachhab Lamiae, Bouslam Naima, Aasfara Jehanne, Sefiani Sanaa, Chabraoui Layachi, El Fahime Elmostafa, El Quessar Abdeljalil, Jiddane Mohamed, Yahyaoui Mohamed   +11 more
doaj   +1 more source

From expression pattern to genetic association in asthma and asthma-related phenotypes [PDF]

, 2012
Background : Asthma is a complex disease characterized by hyperresponsiveness, obstruction and inflammation of the airways. To date, several studies using different approaches as candidate genes approach, genome wide association studies, linkage ...
Bordeleau, Martine, Laprise, Catherine, Laviolette, Michel, Vaillancourt, Vanessa T   +3 more
core   +2 more sources

Impaired CO2 sensitivity of astrocytes in a mouse model of Rett syndrome [PDF]

, 2015
Rett syndrome is a prototypical neurological disorder characterised by abnormal breathing pattern and reduced ventilatory CO2 sensitivity. Medullary astrocytes are a crucial component of central CO2 /pH chemosensitivity.
Abdala, AP, Gourine, AV, Karagiannis, A, Turovsky, E   +3 more
core   +1 more source

Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B [PDF]

, 2013
Background: Canine osteosarcoma is clinically nearly identical to the human disease, but is common and highly heritable, making genetic dissection feasible.
Anderson, Nathan, Biagi, Tara, Breen, Matthew, Comstock, Kenine, Courtay-Cahen, Celine, Couto, Guillermo, Elvers, Ingegerd, Fryc, Sarah, Howald, Cedric, Ivansson, Emma, Karlsson, Elinor K, Kisseberth, William C, Lander, Eric S, Lindblad-Toh, Kerstin, London, Cheryl A, Mandlebaum, Sarah, Modiano, Jaime F, Perloski, Michele, Ricketts, Sally L, Rivera, Patricio, Sigurdsson, Snaevar, Starkey, Mike P, Swofford, Ross, Thomas, Rachael, Tonomura, Noriko, von Euler, Henrik, Wright, Jason, Youell, Lisa   +27 more
core   +2 more sources

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. [PDF]

, 2016
BACKGROUND: EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly ...
Abdelhadi, O, Bockenhauer, D, Iancu, D, Kleta, R, Stanescu, H, Tekman, M   +5 more
core   +1 more source