Concept

Y-chromosomal Adam

Related publications (13)

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...

MDPI2023

Estimating the Topology of Preferential Attachment Graphs Under Partial Observability

Ali H. Sayed, Michele Cirillo

This work addresses the problem of learning the topology of a network from the signals emitted by the network nodes. These signals are generated over time through a linear diffusion process, where neighboring nodes exchange messages according to the underl ...

IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC2023

Mesomelic dysplasias associated with the HOXD locus are caused by regulatory reallocations

Denis Duboule, Lucille Delisle, Christopher Chase Bolt

Mesomelic dysplasia, a severe shortening and bending of the limb, has been linked to rearrangements in the HoxD cluster in humans and mice. Here the authors engineer a 1 Mb inversion including the HoxD gene cluster and use this model to provide a mechanist ...

NATURE PORTFOLIO2021

Exploring on Protein-DNA interactions

Alexandra Styliani Kalantzi

A variety of DNA-binding proteins organizes the chromosomal DNA and regulates gene transcription, and DNA replication and recombination. In particular, for gene regulation there is a category of DNA-binding proteins, the transcription factors, which can de ...

EPFL2019

Distinct distances on regular varieties over finite fields

Van Thang Pham

In this paper we study some generalized versions of a recent result due to Covert, Koh, and Pi (2015). More precisely, we prove that if a subset in a regular variety satisfies vertical bar epsilon vertical bar >> q(d-1/2 + 1/k-1), then Delta(k,F)(epsilon) ...

Elsevier2017

Advances in farm animal genomic resources

Stéphane Joost

The history of livestock started with the domestication of their wild ancestors: a restricted number of species allowed to be tamed and entered a symbiotic relationship with humans. In exchange for food, shelter and protection, they provided us with meat, ...

Frontiers2016

The evolution of gene expression and binding specificity of the largest transcription factor family in primates

Didier Trono, Jeffrey David Jensen, Adamantia Kapopoulou, Lisha Mathew

The KRAB-containing zinc finger (KRAB-ZF) proteins represent the largest family of transcription factors (TFs) in humans, yet for the great majority, their function and specific genomic target remain unknown. However, it has been shown that a large fractio ...

Wiley-Blackwell2016

Insight into the evolution and origin of leprosy bacilli from the genome sequence of Mycobacterium lepromatosis

Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh

Mycobacterium lepromatosis is an uncultured human pathogen associated with diffuse lepromatous leprosy and a reactional state known as Lucio's phenomenon. By using deep sequencing with and without DNA enrichment, we obtained the near-complete genome sequen ...

National Academy of Sciences2015

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Tatiana Favez

Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...

Bmj Publishing Group2014

Regulation of Episomal Gene Expression by KRAB/KAP1-Mediated Histone Modifications

Didier Trono, Patrick Aebischer, Isabelle Barde, Sonia Verp, Vivianne Padrun, Christopher Towne, Anna Claire Groner

KAP1 is an essential cofactor of KRAB zinc finger proteins, a family of vertebrate-specific epigenetic repressors of largely unknown functions encoded in the hundreds by the mouse and human genomes. So far, KRAB/KAP1-mediated gene regulation has been studi ...

American Society for Microbiology2009

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