Results 161 to 170 of about 115,560 (292)

The Chromosome Bias of Misincorporations During Double-Strand Break Repair Is Not Altered in Mismatch Repair–Defective Strains of Saccharomyces cerevisiae [PDF]

, 1998
Carolyn McGill, Susan L. Holbeck, Jeffrey N. Strathern   +2 more
openalex   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

Dissection of genomic regions underlying early seedling vigour in chickpea through genome-wide association mapping. [PDF]

BMC Plant Biol
Dasgupta U, M B AK, Kumar N, Bharath S, Tripathi S, Bharadwaj C.   +5 more
europepmc   +1 more source

[Prenatal diagnosis of chromosomic defects in Costa Rica].

Revista de biologia tropical, 2004
Esta es una breve reseña histórica del diagnóstico prenatal citogenético en Costa Rica. Se realiza únicamente en el Instituto de Investigaciones en Salud de la Universidad de Costa Rica desde el año 1984. Sirve a los hospitales de la seguridad social y a la medicina privada.
openaire   +2 more sources

Integrase Mutants Defective for Interaction with LEDGF/p75 Are Impairedin Chromosome Tethering and HIV-1Replication [PDF]

, 2005
Stéphane Emiliani, Aurélie Mousnier, Katrien Busschots, Marlène Maroun, Bénédicte Van Maele, Denis Tempé, Linos Vandekerckhove, Fanny Moisant, L. Benslama, Myriam Witvrouw, Frauke Christ, Jean‐Christophe Rain, Catherine Dargemont, Zeger Debyser, Richard Bénarous   +14 more
openalex   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Contribution of overproduced chromosomal beta-lactamase and defective outer membrane porins to resistance to extended-spectrum beta-lactam antibiotics in Serratia marcescens [PDF]

, 1998
H Weindorf
openalex   +1 more source

SOX30 Governs Synaptonemal Complex Assembly and Homologous Recombination in Male Meiosis

Cell Proliferation, EarlyView.
The transcription factor SOX30 directly binds promoter regions of SYCE1 and SYCE2 to mediate their transcriptional activation, thereby enabling proper assembly of central elements within the synaptonemal complex. Structural destabilisation of the synaptonemal complex in Sox30 KK spermatocytes triggers synaptic discontinuity, impairs homologous ...
Kangle Liu, Wenfeng Zhang, Xiao Jiang, Jianping Chen, Lei Zhu, Zhonghao Zhang, Jing Gu, Lulu Guo, Lin Ao, Qing Chen, Lei Sun, Yuhan Hu, Xin Wang, Yaxin Liu, Jia Cao, Fei Han, Jinyi Liu   +16 more
wiley   +1 more source

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes. [PDF]

G3 (Bethesda)
Baccas M, Liu J.
europepmc   +1 more source

Adeno-associated virus Rep-mediated targeting of integrase-defective retroviral vector DNA circles into human chromosome 19

, 2011
ShuoHao Huang, Yoshinori Kawabe, Akira Itô, Masamichi Kamihira   +3 more
openalex   +2 more sources