Results 121 to 130 of about 11,932 (230)

The \u3cem\u3eChlamydomonas\u3c/em\u3e Genome Reveals the Evolution of Key Animal and Plant Functions [PDF]

, 2007
Chlamydomonas reinhardtii is a unicellular green alga whose lineage diverged from land plants over 1 billion years ago. It is a model system for studying chloroplast-based photosynthesis, as well as the structure, assembly, and function of eukaryotic ...
Abby Ngau, Wing Chi, Allmer, Jens, Balk, Janneke, Ball, Steven, Bisova, Katerina, Bowler, Chris, Brokstein, Peter, Cardol, Pierre, Cerutti, Heriberto, Chanfreau, Guillaume, Chen, Chong-Jian, Chen, Chun-Long, Cognat, Valerie, Croft, Martin T., Dent, Rachel, Dieckmann, Carol L., Dubchak, Inna, Dutcher, Susan, Elias, Mark, Fernández, Emilio, Ferris, Patrick, Fritz-Laylin, Lillian K., Fukuzawa, Hideya, Gendler, Karla, Gladyshev, Vadim N., González-Ballester, David, González-Halphen, Diego, Goodstein, David, Green, Pamela, Grigoriev, Igor V., Grimwood, Jane, Grossman, Arthur R., Hallmann, Armin, Hanikenne, Marc, Harris, Elizabeth H., Hauser, Charles, Hippler, Michael, Hornick, Leila, Huang, Y. Wayne, Inwood, William, Jabbari, Kamel, Jhaveri, Jinal, Jorgensen, Richard, Kalanon, Ming, Kapitonov, Vladimir V., Karpowicz, Steven J., Kuras, Richard, Lamb, Mary Rose, Ledford, Heidi, Lefebvre, Paul A., Lemaire, Stéphane D., Lindquist, Erika, Lobanov, Alexey V., Lohr, Martin, Long, Joanne C., Lucas, Susan M., Luo, Yigong, Manuell, Andrea, Marshall, Wallace F., Martinez, Diego, Maréchal-Drouard, Laurence, Mayfield, Stephen, Meier, Iris, Merchant, Sabeeha S., Mets, Laurens, Minagawa, Jun, Mittag, Maria, Mittelmeier, Telsa, Moroney, James V., Moseley, Jeffrey, Mueller-Roeber, Bernd, Napoli, Carolyn, Nedelcu, Aurora M., Nelson, David R., Niyogi, Krishna, Novoselov, Sergey V., Otillar, Bobby, Page, M. Dudley, Pan, Junmin, Paulsen, Ian T., Pazour, Greg, Poliakov, Alexander, Pootakham, Wirulda, Porter, Aaron, Prochnik, Simon E., Purton, Saul, Qu, Liang-Hu, Rajamani, Sathish, Ral, Jean-Philippe, Ren, Qinghu, Riaño-Pachón, Diego Mauricio, Riekhof, Wayne, Roje, Sanja, Rokhsar, Daniel S., Rose, Annkatrin, Rymarquis, Linda, Salamov, Asaf, Sanderfoot, Anton A., Sayre, Richard T., Schmutz, Jeremy, Schroda, Michael, Shapiro, Harris, Spalding, Martin H., Stahlberg, Eric, Stern, David, Szajkowski, Lukasz, Terauchi, Aimee M., Terry, Astrid, Umen, James, Vallon, Olivier, Werner, Gregory, Willows, Robert, Wilson, Nedra, Witman, George B., Yang, Pinfen, Zhou, Kemin, Zimmer, Sara Lana   +116 more
core   +1 more source

Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Frontiers in Molecular Biosciences
IntroductionAdvanced genetic strategies have transformed our understanding of the genetic basis and diagnosis of many phenotypes, including rare diseases.
Macarena Gajardo, José Luis Guerrero, Bárbara Poblete, Esperanza Bayyad, Ignacio Castro, Jorge Maturana, Jaime Tobar, Víctor Faúndes, Paola Krall, Paola Krall, Paola Krall   +10 more
doaj   +1 more source

Syndromic ciliopathy: a taiwanese single-center study

BMC Medical Genomics
Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology
Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai   +10 more
doaj   +1 more source

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]

, 2018
We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara   +10 more
core  

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

Ciliopathy

Nihon Shoni Jinzobyo Gakkai Zasshi, 2012
Koichi Nakanishi, Norishige Yoshikawa
openaire   +2 more sources

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies. [PDF]

Genome Biol
Aarts EM, Laman Trip DS, Neatu R, Martin CG, Riley B, Kraus A, Green A, Al-Hamed MH, Armstrong RE, Sayer JA, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Correction: Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis. [PDF]

Sci Rep
Epting D, Devane J, Mertes R, Kayser S, Helmstädter M, Metzger P, Boerries M, Bergmann C, Ott E.   +8 more
europepmc   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

A liquid-like organelle at the root of motile ciliopathy [PDF]

, 2018
Boulgakov, Alexander A, Brody, Steven L, Horani, Amjad, Huizar, Ryan L, Lee, Chanjae, Marcotte, Edward M, Tu, Fan, Wallingford, John B   +7 more
core   +1 more source