Search Results - "Cavalleri, L."

Ketamine enhances structural plasticity in mouse mesencephalic and human iPSC-derived dopaminergic neurons via AMPAR-driven BDNF and mTOR signaling by Cavalleri, L, Merlo Pich, E, Millan, M J, Chiamulera, C, Kunath, T, Spano, P F, Collo, G

“…Among neurobiological mechanisms underlying antidepressant properties of ketamine, structural remodeling of prefrontal and hippocampal neurons has been…”
Get full text

Distinct HLA associations of LGI1 and CASPR2-antibody diseases by Binks, Sophie, Varley, James, Lee, Wanseon, Makuch, Mateusz, Elliott, Katherine, Gelfand, Jeffrey M, Jacob, Saiju, Leite, M Isabel, Maddison, Paul, Chen, Mian, Geschwind, Michael D, Grant, Eleanor, Sen, Arjune, Waters, Patrick, McCormack, Mark, Cavalleri, Gianpiero L, Barnardo, Martin, Knight, Julian C, Irani, Sarosh R

“…The mechanisms responsible for the generation of LGI1- or CASPR2-antibodies are unknown. Binks et al. describe two strikingly dichotomous HLA-associations,…”
Get full text

Population History and Altitude-Related Adaptation in the Sherpa by Bhandari, Sushil, Cavalleri, Gianpiero L.

“…The first ascent of Mount Everest by Tenzing Norgay and Sir Edmund Hillary in 1953 brought global attention to the Sherpa people and human performance at…”
Get full text

Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders by Beall, Cynthia M, Cavalleri, Gianpiero L, Deng, Libin, Elston, Robert C, Gao, Yang, Knight, Jo, Li, Chaohua, Li, Jiang Chuan, Liang, Yu, McCormack, Mark, Montgomery, Hugh E, Pan, Hao, Robbins, Peter A, Shianna, Kevin V, Tam, Siu Cheung, Tsering, Ngodrop, Veeramah, Krishna R, Wang, Wei, Wangdui, Puchung, Weale, Michael E, Xu, Yaomin, Xu, Zhe, Yang, Ling, Zaman, M. Justin, Zeng, Changqing, Zhang, Li, Zhang, Xianglong, Zhaxi, Pingcuo, Zheng, Yong Tang

“…By impairing both function and survival, the severe reduction in oxygen availability associated with high-altitude environments is likely to act as an agent of…”
Get full text

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function by Gómez-Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocío, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean, Delanty, Norman, Cortés-Ledesma, Felipe, de Brouwer, Arjan P M, Cavalleri, Gianpiero L, El-Khamisy, Sherif F, de Vries, Bert B A, Caldecott, Keith W

“…Keith Caldecott, Bert de Vries, Sherif El-Khamisy, Gianpiero Cavalleri and colleagues identify homozygous TDP2 mutations in individuals with intellectual…”
Get full text

Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia by Petousi, Nayia, Croft, Quentin P P, Cavalleri, Gianpiero L, Cheng, Hung-Yuan, Formenti, Federico, Ishida, Koji, Lunn, Daniel, McCormack, Mark, Shianna, Kevin V, Talbot, Nick P, Ratcliffe, Peter J, Robbins, Peter A

“…Tibetan natives have lived on the Tibetan plateau (altitude ∼ 4,000 m) for at least 25,000 years, and as such they are adapted to life and reproduction in a…”
Get full text

Population history and genome wide association studies of birth weight in a native high altitude Ladakhi population by Bhandari, Sushil, Dolma, Padma, Mukerji, Mitali, Prasher, Bhavana, Montgomery, Hugh, Kular, Dalvir, Jain, Vandana, Dadhwal, Vatsla, Williams, David J, Bhattacharyaa, Aniket, Gilbert, Edmund, Cavalleri, Gianpiero L, Hillman, Sara L

“…Pathological low birth weight due to fetal growth restriction (FGR) is an important predictor of adverse obstetric and neonatal outcomes. It is more common…”
Get full text

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades by Hallast, Pille, Batini, Chiara, Zadik, Daniel, Maisano Delser, Pierpaolo, Wetton, Jon H, Arroyo-Pardo, Eduardo, Cavalleri, Gianpiero L, de Knijff, Peter, Destro Bisol, Giovanni, Dupuy, Berit Myhre, Eriksen, Heidi A, Jorde, Lynn B, King, Turi E, Larmuseau, Maarten H, López de Munain, Adolfo, López-Parra, Ana M, Loutradis, Aphrodite, Milasin, Jelena, Novelletto, Andrea, Pamjav, Horolma, Sajantila, Antti, Schempp, Werner, Sears, Matt, Tolun, Aslıhan, Tyler-Smith, Chris, Van Geystelen, Anneleen, Watkins, Scott, Winney, Bruce, Jobling, Mark A

“…Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as a marker, but MSY sequence variants have traditionally been…”
Get full text

The genetic landscape of Scotland and the Isles by Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettigan, Darren, Vitart, Veronique, Joshi, Peter K., Clark, David W., Campbell, Harry, Hayward, Caroline, Ring, Susan M., Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M., Amador, Carmen, Campbell, Archie, Haley, Chris S., Porteous, David J., Cavalleri, Gianpiero L., Wilson, James F.

“…Britain and Ireland are known to show population genetic structure; however, large swathes of Scotland, in particular, have yet to be described. Delineating…”
Get full text

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation by Finnegan, Rebecca, O'Regan, Mary, White, Máire, Cavalleri, Gianpiero L., Delanty, Norman, Benson, Katherine A., Greally, Marie T.

“…ABSTRACT Background Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of…”
Get full text

Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease: A HuGE Review by Casas, Juan P., Cavalleri, Gianpiero L., Bautista, Leonelo E., Smeeth, Liam, Humphries, Steve E., Hingorani, Aroon D.

“…This review examines the association of a subset of endothelial nitric oxide synthase gene (NOS3) polymorphisms (Glu298Asp, intron 4, and -786T>C) with…”
Get full text

Genetic Predictors of the Maximum Doses Patients Receive during Clinical Use of the Anti-Epileptic Drugs Carbamazepine and Phenytoin by Tate, Sarah K., Depondt, Chantal, Sisodiya, Sanjay M., Cavalleri, Gianpiero L., Schorge, Stephanie, Soranzo, Nicole, Thom, Maria, Sen, Arjune, Shorvon, Simon D., Sander, Josemir W., Wood, Nicholas W., Goldstein, David B., Motulsky, Arno G.

“…Phenytoin and carbamazepine are effective and inexpensive anti-epileptic drugs (AEDs). As with many AEDs, a broad range of doses is used, with the final…”
Get full text

An Exome Sequencing Study of 10 Families with IgA Nephropathy by Stapleton, Caragh P, Kennedy, Claire, Fennelly, Neil K, Murray, Susan L, Connaughton, Dervla M, Dorman, Anthony M, Doyle, Brendan, Cavalleri, Gianpiero L, Conlon, Peter J

“…Immunoglobulin A nephropathy (IgAN) is a heterogeneous disorder with a strong genetic component. The advent of whole exome sequencing (WES) has accelerated the…”
Get more information

Genetic structure in the Sherpa and neighboring Nepalese populations by Cole, Amy M, Cox, Sean, Jeong, Choongwon, Petousi, Nayia, Aryal, Dhana R, Droma, Yunden, Hanaoka, Masayuki, Ota, Masao, Kobayashi, Nobumitsu, Gasparini, Paolo, Montgomery, Hugh, Robbins, Peter, Di Rienzo, Anna, Cavalleri, Gianpiero L

“…We set out to describe the fine-scale population structure across the Eastern region of Nepal. To date there is relatively little known about the genetic…”
Get full text

Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin by Boothman, Isabelle, Clayton, Lisa M., McCormack, Mark, Driscoll, Alexandra McKibben, Stevelink, Remi, Moloney, Patrick, Krause, Roland, Kunz, Wolfram S., Diehl, Sarah, O’Brien, Terence J., Sills, Graeme J., de Haan, Gerrit-Jan, Zara, Federico, Koeleman, Bobby P., Depondt, Chantal, Marson, Anthony G., Stefansson, Hreinn, Stefansson, Kari, Craig, John, Johnson, Michael R., Striano, Pasquale, Lerche, Holger, Furney, Simon J., Delanty, Norman, Sisodiya, Sanjay M., Cavalleri, Gianpiero L.

“…Background The anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by…”
Get full text

The role of common genetic variation in presumed monogenic epilepsies by Campbell, Ciarán, Leu, Costin, Feng, Yen-Chen Anne, Wolking, Stefan, Moreau, Claudia, Ellis, Colin, Ganesan, Shiva, Martins, Helena, Oliver, Karen, Boothman, Isabelle, Benson, Katherine, Molloy, Anne, Brody, Lawrence, Michaud, Jacques L., Hamdan, Fadi F., Minassian, Berge A., Lerche, Holger, Scheffer, Ingrid E., Sisodiya, Sanjay, Girard, Simon, Cosette, Patrick, Delanty, Norman, Lal, Dennis, Cavalleri, Gianpiero L.

“…The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual…”
Get full text

Utility of Genomic Testing after Renal Biopsy by Murray, Susan L, Dorman, Anthony, Benson, Katherine A, Connaughton, Dervla M, Stapleton, Caragh P, Fennelly, Neil K, Kennedy, Claire, McDonnell, Ciara A, Kidd, Kendrah, Cormican, Sarah M, Ryan, Louise A, Lavin, Peter, Little, Mark A, Bleyer, Anthony J, Doyle, Brendan, Cavalleri, Gianpiero L, Hildebrandt, Friedhelm, Conlon, Peter J

“…Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise…”
Get more information

Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications by Wolking, Stefan, Campbell, Ciarán, Stapleton, Caragh, McCormack, Mark, Delanty, Norman, Depondt, Chantal, Johnson, Michael R, Koeleman, Bobby P C, Krause, Roland, Kunz, Wolfram S, Marson, Anthony G, Sander, Josemir W, Sills, Graeme J, Striano, Pasquale, Zara, Federico, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Lerche, Holger

“…Resistance to anti-seizure medications (ASMs) presents a significant hurdle in the treatment of people with epilepsy. Genetic markers for resistance to…”
Get full text

Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy by Alhusaini, Saud, Scanlon, Cathy, Ronan, Lisa, Maguire, Sinead, Meaney, James F, Fagan, Andrew J, Boyle, Gerard, Borgulya, Gabor, Iyer, Parameswaran M, Brennan, Paul, Costello, Daniel, Chaila, Elijah, Fitzsimons, Mary, Doherty, Colin P, Delanty, Norman, Cavalleri, Gianpiero L

“…We aimed to 1) determine if subcortical volume deficits are common to mesial temporal lobe epilepsy (MTLE) patients and their unaffected siblings 2) assess the…”
Get full text

Excavating Y-chromosome haplotype strata in Anatolia by CINNIOGLU, Cengiz, KING, Roy, OEFNER, Peter J, PEIDONG SHEN, SEMINO, Ornella, CAVALLI-SFORZA, L. Luca, UNDERHILL, Peter A, KIVISILD, Toomas, KALFOGLU, Ersi, ATASOY, Sevil, CAVALLERI, Gianpiero L, LILLIE, Anita S, ROSEMAN, Charles C, LIN, Alice A, PRINCE, Kristina

“…Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52 distinct haplotypes with considerable haplogroup substructure, as exemplified…”
Get full text