van Theo Dijk, van der Sluijs, Coen Wiegman, Jfw Baller, L. A. Gustafson, Huibert Burger, AW Herling, Folkert Kuipers, A. J. Meijer, Dirk‐Jan Reijngoud,
... situ liver perfusion with collagenase (14Meijer A.J. Lof C. Ramos I.C. Verhoeven A.J. Eur. J. Biochem. 1985; 148: 189-196Crossref PubMed Scopus (91) Google Scholar). Incubations of freshly isolated hepatocytes (5–10 mg dry mass/ml) were carried out at 37 °C ...
Tópico(s): Amino Acid Enzymes and Metabolism
2001 - Elsevier BV | Journal of Biological Chemistry
Zhimiao Lin, Jiahui Zhao, Daniela Nitoiu, Claire A. Scott, Vincent Plagnol, Frances J.D. Smith, Neil Wilson, Christian Cole, Mary Schwartz, W.H. Irwin McLean, Huijun Wang, Cheng Feng, Lina Duo, Eray Yihui Zhou, Yali Ren, Lanlan Dai, Yulan Chen, Jianguo Zhang, Xun Xu, Edel A. O’Toole, David P. Kelsell, Yong Yang,
... Here we show that homozygous loss-of-function (LOF) mutations in CAST (MIM 114090) underlie autosomal-recessive ... and Sanger sequencing we demonstrate that distinct homozygous LOF CAST mutations segregate with the disorder in all ... assay. To determine the functional consequences of CAST LOF mutations in vitro, we performed siRNA-mediated knockdown ( ... culture plates. CAST KD cells (mimicking the homozygous LOF mutations) and NTP cells were subjected to mechanical ... 46) Google Scholar The possible effects of CAST LOF mutations on keratinocyte migration were assessed by performing ...
Tópico(s): Genetic and rare skin diseases.
2015 - Elsevier BV | The American Journal of Human Genetics
David Tilman, Clarence Lehman, Charles E. Bristow,
... Ricardo Ruiz‐Peinado, Hervé Jactel, Lluís Coll, Magnus Löf, Jorge Aldea, Christian Ammer, Admir Avdagić, Ignacio Barbeito, ...
Tópico(s): Soil and Water Nutrient Dynamics
1998 - University of Chicago Press | The American Naturalist
... Ricardo Ruiz‐Peinado, Hervé Jactel, Lluís Coll, Magnus Löf, Jorge Aldea, Christian Ammer, Admir Avdagić, Ignacio Barbeito, ...
Tópico(s): Soil and Water Nutrient Dynamics
1998 - University of Chicago Press | The American Naturalist
María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand, Marja W. Wessels, S. White, Monica H. Wojcik, Nan Wu, Sen Zhao, Bart Dermaut, Bekim Sadiković, Björn Menten, Bo Yuan, Sarah Vergult, Bert Callewaert,
... the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic ... short stature, brachydactyly, and, rarely, cleft palate. ZFHX3 LoF associates with a specific methylation profile in whole ...
Tópico(s): Genomics and Rare Diseases
2024 - Elsevier BV | The American Journal of Human Genetics