Results 21 to 30 of about 548,379 (312)

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]

, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Basak, A, Hilal, L., Cherif Chefchaouni, M., Slingsby, Christine, Hajaji, Y, Basak, Ajit K., Arbogast, L., Abitbol, Marc, M, Nandrot, E., Cherif-Chefchaouni, M, Benazzouz, B, Boutayeb, S, Boutayeb, S., Berraho, A., Hilal, Latifa, Abitbol, M., Arbogast, Laurence, Hajaji, Y., Gribouval, O., Benazzouz, B., Abitbol, Marc,, Nandrot, Emeline, Gribouval, Olivier   +22 more
core   +1 more source

Gene Therapy for Autosomal Dominant Disorders of Keratin [PDF]

Journal of Investigative Dermatology Symposium Proceedings, 2005
Dominant mutations that interfere with the assembly of keratin filaments cause painful and disfiguring epidermal diseases like pachyonychia congenita and epidermolysis bullosa simplex. Genetic therapies for such diseases must either suppress the production of the toxic proteins or correct the genetic defect in the chromosome.
Lewin, Alfred S., Glazer, Peter M., Milstone, Leonard M.   +2 more
openaire   +2 more sources

Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Wuethrich, Rudolf P., Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D   +101 more
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A dominant repressor version of the tomatoSl-ERF.B3gene confers ethylene hypersensitivity via feedback regulation of ethylene signaling and response components [PDF]

, 2013
Ethylene Response Factors (ERFs) are downstream components of the ethylene signal transduction pathway, although their role in ethylene-dependent developmental processes remains poorly understood. As the ethylene-inducible tomato Sl-ERF.B3 has been shown
Kesari, Ravi, Roustan, Jean-Paul, Regad, Farid, Liu, Mingchun, Latché, Alain, Li, Zhengguo, Pech, Jean-Claude, Pirrello, Julien, Mila, Isabelle, Bouzayen, Mondher   +9 more
core   +1 more source

Deciphering the mode of action and position of genetic variants impacting on egg number in broiler breeders

BMC Genomics, 2020
Background Aim of the present study was first to identify genetic variants associated with egg number (EN) in female broilers, second to describe the mode of their gene action (additive and/or dominant) and third to provide a list with implicated ...
Eirini Tarsani, Andreas Kranis, Gerasimos Maniatis, Santiago Avendano, Ariadne L. Hager-Theodorides, Antonios Kominakis   +5 more
doaj   +1 more source

Two Genetically Defined Tram-Acting Loci Coordinately Regulate Overlapping Sets of Liver-Specific Genes [PDF]

, 1990
Mice homozygous for deletions around the albino locus fail to activate expression of a set of neonatal liver functions and die shortly after birth. This phenotype is thought to result from the loss of a positive trans-acting factor, denoted alf, in ...
Boshart, Michael, Bosch, Franz X., Ruppert, Siegfried, Schmidt, Walter, Schlitz, Günther, Fournier, R. E. Keith   +5 more
core   +1 more source

A Joint Segregation Analysis of the Inheritance of Fertility Restoration for Cytoplasmic Male Sterility in Pepper

Journal of the American Society for Horticultural Science, 2019
A cytoplasmic male sterility (CMS) system is one of the most efficient ways to produce F1 hybrid seeds in pepper (Capsicum annuum). Restorer-of-fertility (Rf) genes are a critical component within the CMS/Rf system.
Bingqiang Wei, Lanlan Wang , Paul W. Bosland, Gaoyuan Zhang, Ru Zhang   +4 more
doaj   +1 more source

Molecular Mechanisms of Isolated Polycystic Liver Diseases

Frontiers in Genetics, 2022
Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two genetically and clinically distinct forms: autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD).
Ziqi Yu, Xiang Shen, Chong Hu, Jun Zeng, Aiyao Wang, Jianyong Chen   +5 more
doaj   +1 more source

Dominant constraints on the evolution of rhythmic gene expression

Computational and Structural Biotechnology Journal, 2022
Abstract Although the individual transcriptional regulators of the core circadian clock are distinct amongst different organisms, the autoregulatory feedback loops they form are conserved. This unified design principle explains how daily physiological activities oscillate across species.
Yang Cheng, Yuhao Chi, Linying Sun, Guang-Zhong Wang   +3 more
openaire   +3 more sources

DA endothelium-dominant genes. [PDF]

, 2013
Eighty two genes in the F group and 81 genes in the N group were expressed more than 2-fold in ECs of the DA than in ECs of the aorta ...
Norika Mengchia Liu (463999), Ping Lü (5656447), Inbun Tei (464002), Susumu Minamisawa (324230), Shun Maekawa (464001), Hideki Taniguchi (200395), Tomohiro Yokota (464000), Utako Yokoyama (324208), Takashi Kato (332943)   +8 more
core   +1 more source