Results 51 to 60 of about 73,290 (250)

Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: a familiar case with recombination event

Revista Ciencias de la Salud, 2012
Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterizedby muscular weakness. It is caused by mutations on the dystrophin gen.
Fonseca-Mendoza Dora Janeth, Mateus-Arbeláez Heidi, Silva-Aldana Claudia Tamar   +2 more
doaj  

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Molecular Analysis: Microsatellite Instability and Loss of Heterozygosity of Tumor Suppressor Gene in Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Biomolecules & Biomedicine, 2009
HNPCC (Hereditary non-polyposis colorectal cancer) development is caused by mutation of genes included in system of mismatch repair genes. The mutation exists at 60% of patients in hMSH2 gene, 30% in hMLH1 and 10% both in hPMS1and hPMS2 genes.
Vesna Hadžiavdić, Nada Pavlović-Čalić, Izet Eminović   +2 more
doaj   +1 more source

Selection for heterozygosity gives hope to a wild population of inbred wolves. [PDF]

PLoS ONE, 2006
Recent analyses have questioned the usefulness of heterozygosity estimates as measures of the inbreeding coefficient (f), a finding that may have dramatic consequences for the management of endangered populations.
Staffan Bensch, Henrik Andrén, Bengt Hansson, Hans Chr Pedersen, Håkan Sand, Douglas Sejberg, Petter Wabakken, Mikael Akesson, Olof Liberg   +8 more
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source

CRISPR-Cas9 Editing Induces Loss of Heterozygosity in the Pathogenic Yeast Candida parapsilosis

mSphere, 2022
Genetic manipulation is often used to study gene function. However, unplanned genome changes (including single nucleotide polymorphisms [SNPs], aneuploidy, and loss of heterozygosity [LOH]) can affect the phenotypic traits of the engineered strains. Here,
Lisa Lombardi, Sean A. Bergin, Adam Ryan, Evelyn Zuniga-Soto, Geraldine Butler   +4 more
doaj   +1 more source

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 more
wiley   +1 more source

Analysis of loss of heterozygosity of the tumor suppressor genes p53 and BRCA1 in ovarial carcinomas [PDF]

Vojnosanitetski Pregled, 2006
Background/aim: Among the genes involved in ovarian carcinogenesis, there has been increased interest in tumor-suppressor genes p53 and BRCA1. Both of the genes make control of cell cycle, DNA repair and apoptosis.
Luković Ljiljana, Popović Branka, Atanacković Jasmina, Novaković Ivana, Perović Milica, Petrović Bojana, Petković Spasoje   +6 more
doaj   +1 more source

Reclassification of oligoastrocytomas by loss of heterozygosity studies [PDF]

International Journal of Cancer, 2006
Abstract Oligoastrocytomas (OAs) are WHO grade II or III tumors composed of a mixture of 2 neoplastic cell types morphologically resembling the cells in oligodendrogliomas and diffuse astrocytomas. Investigations on the genetic profile of OAs may yield important information for their classification and help for ...
Marica, Eoli, Lorena, Bissola, Maria Grazia, Bruzzone, Bianca, Pollo, Carmelo, Maccagnano, Tiziana, De Simone, Lorella, Valletta, Antonio, Silvani, D, Bianchessi, Giovanni, Broggi, Amerigo, Boiardi, Gaetano, Finocchiaro   +11 more
openaire   +2 more sources

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source