Results 61 to 70 of about 9,839 (200)

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations [PDF]

European Journal of Human Genetics, 2016
The Msx1 transcription factor is involved in multiple epithelial-mesenchymal interactions during vertebrate embryogenesis. It has pleiotropic effects in several tissues. In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia.
Liang, J., Hoff, J.W. Von den, Lange, J., Ren, Y., Bian, Z., Carels, C.E.L.   +5 more
openaire   +3 more sources

Strong mutator phenotype drives faster adaptation from growth on glucose to growth on acetate in Salmonella

, 2014
International audienceThe metabolic adaptation of strong mutator strains was studied to better understand the link between the strong mutator phenotype and virulence.
Barloy-Hubler, Frédérique, Le Bars, Hervé, Bousarghin, Latifa, Jolivet-Gougeon, Anne, Bonnaure-Mallet, Martine   +4 more
core   +1 more source

The ZmRACK1–ZmCDPK7–ZmAPX1 module regulates plant antiviral immunity

Journal of Integrative Plant Biology, EarlyView.
In maize, ZmRACK1 acts as a scaffold protein that bridges the cyclin‐dependent kinase ZmCDPK7 and the ascorbate peroxidase ZmAPX1, promoting ZmAPX1 activity to mitigate MCMV infection. Upon viral infection, P31 obstructs formation of the ZmRACK1‐ZmCDPK7‐ZmAPX1 complex, inhibiting ZmCDPK7‐mediated ZmAPX1 activity and promoting reactive oxygen species ...
Yuyang Zhang, Niannian Li, Qiongqiong Wang, Yingchao Sun, Yajuan Shi, Lianwei Yu, Xiaoyu Han, Xiaoxi Feng, Zaifeng Fan, Linlin Chen, Honglian Li, Xue Yang, Hongxia Yuan, Yan Shi   +13 more
wiley   +1 more source

Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]

Current Biology, 1999
Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Drotschmann, Karin, Clark, Alan B., Kunkel, Thomas A.   +2 more
openaire   +2 more sources

Normal mutation rate variants arise in a Mutator (Mut S) Escherichia coli population. [PDF]

PLoS ONE, 2013
The rate at which mutations are generated is central to the pace of evolution. Although this rate is remarkably similar amongst all cellular organisms, bacterial strains with mutation rates 100 fold greater than the modal rates of their species are ...
María-Carmen Turrientes, Fernando Baquero, Bruce R Levin, José-Luis Martínez, Aida Ripoll, José-María González-Alba, Raquel Tobes, Marina Manrique, Maria-Rosario Baquero, Mario-José Rodríguez-Domínguez, Rafael Cantón, Juan-Carlos Galán   +11 more
doaj   +1 more source

Lamin B1 safeguards the B cell genome and shapes lymphoma outcome

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract Lamin B1 is a structural component of the nuclear lamina that participates in genome organization and transcriptional control. During adaptive immune responses, B lymphocytes in germinal centers (GCs) undergo clonal expansion and programmed DNA damage at immunoglobulin loci, while simultaneously downregulating Lamin B1.
Filip Filipsky, Katarina B. Chapman, Johannes Bloehdorn, Oscar Maiques, Abigail Lee, Andrew Clear, Jun Wang, John Gribben, Michael Hausmann, Christoph Cremer, Andrejs Braun, Marta C. Sallan, Tanya Klymenko   +12 more
wiley   +1 more source

Phenotypic clustering in MPZ mutations [PDF]

Brain, 2004
Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains. Homotypic interactions between extracellular domains of MPZ adhere adjacent myelin wraps to each other.
SHY M. E, JANI A, KRAJEWSKI K, GRANDIS, MARINA, LEWIS R. A, LI J, SHY R. R, BALSAMO J, LILIEN J, GARBERN J. Y, KAMHOLZ J.   +10 more
openaire   +3 more sources

Activation-induced cytidine deaminase fails to induce a mutator phenotype in the human pre-B cell line Nalm-6.

, 2005
Activation-induced cytidine deaminase (AID) plays a key role in the induction of somatic hypermutation and class switching at the immunoglobulin loci of B lymphocytes.
Rückerl, F., Bachl, J.
core   +1 more source

The cyclin‐dependent kinase inhibitor KIP‐RELATED PROTEIN 6 promotes stem cell death upon DNA damage in Arabidopsis roots

The Plant Journal, Volume 126, Issue 5, June 2026.
SUMMARY Maintenance of genome integrity is essential for plant growth and survival. Plants have evolved specialised DNA damage responses that coordinate DNA repair, cell cycle arrest and stem cell‐specific cell death. However, the mechanism through which damaged stem cells are selectively eliminated remains unclear.
Toshiki Wada, Ayako N. Sakamoto, Masaaki Umeda, Naoki Takahashi   +3 more
wiley   +1 more source

The Cardiac Phenotype in Patients With a CHD7 Mutation [PDF]

Circulation: Cardiovascular Genetics, 2013
Background— Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations ...
Corsten-Janssen, N., Kerstjens-Frederikse, W.S., Marchie Sarvaas, G.J. du, Baardman, M.E., Bakker, M.K., Bergman, J.E., Hove, H.D., Heimdal, K.R., Rustad, C.F., Hennekam, R.C.M., Hofstra, R.M., Hoefsloot, L.H., Ravenswaaij-Arts, C.M.A. van, Kapusta, L.   +13 more
openaire   +6 more sources