Concept

Autosome

Related publications (14)

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Denis Duboule

The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inv ...

NATURE PUBLISHING GROUP2020

DPPA2 and DPPA4 are necessary to establish a 2C‐like state in mouse embryonic stem cells

Didier Trono, Julien Léonard Duc, Alexandre Coudray, Alberto De Iaco

After fertilization of the transcriptionally silent oocyte, expression from both parental chromosomes is launched through zygotic genome activation (ZGA), occurring in the mouse at the 2-cell (2C) stage. Among the first elements to be transcribed are the D ...

2019

Fabrication and practical applications of molybdenum disulfide nanopores

Aleksandra Radenovic, Martina Lihter, Mukeshchand Thakur, Michael Graf, Ke Liu, Jiandong Feng

Among the different developed solid-state nanopores, nanopores constructed in a monolayer of molybdenum disulfide (MoS2) stand out as powerful devices for single-molecule analysis or osmotic power generation. Because the ionic current through a nanopore is ...

2019

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Bogdan Draganski, Nouchine Hadjikhani, Loyse Hippolyte, Borja Rodriguez Herreros

BACKGROUND: Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of thes ...

Elsevier Science Inc2016

Mono- and bi-allelic mutations in the low-density lipoprotein receptor related protein 5 (LRP5) may cause osteopetrosis, autosomal dominant and recessive exudative vitreoretinopathy, juvenile osteoporosis, or persistent hyperplastic primary vitreous (PHPV) ...

Springer London Ltd2016

We describe here the construction of a new version of the Escherichia coli-Streptomyces shuttle cloning vector pIJ6902, which carries the original thiostrepton-inducible PtipA as well as the integrative and cloning systems, but with the E. coil low copy nu ...

Academic Press Inc Elsevier Science2015

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for a ...

Nature Publishing Group2015

Dividing the spoils of growth and the cell cycle: The fission yeast as a model for the study of cytokinesis

Viesturs Simanis, Anupama Goyal

Cytokinesis is the final stage of the cell cycle, and ensures completion of both genome segregation and organelle distribution to the daughter cells. Cytokinesis requires the cell to solve a spatial problem (to divide in the correct place, orthogonally to ...

2011

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