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Concept

Short stature

Publications associées (6)

Three-dimensional hydraulic fracture propagation in homogeneous and heterogeneous media

Carlo Peruzzo

Hydraulic fractures are tensile fractures that occur in solid materials due to the natural intrusion or anthropogenic injection of a viscous fluid into a fracture channel. The deliberate creation of hydraulic fractures is part of an industrial technology h ...

EPFL2023

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2022

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

Human biases in body measurement estimation

Robert West, Venkata Rama Kiran Garimella

Body measurements, including weight and height, are key indicators of health. Being able to visually assess body measurements reliably is a step towards increased awareness of overweight and obesity and is thus important for public health. Nevertheless it ...

2020

Detection of Convergent Genome-Wide Signals of Adaptation to Tropical Forests in Humans

Matthieu Foll

Tropical forests are believed to be very harsh environments for human life. It is unclear whether human beings would have ever subsisted in those environments without external resources. It is therefore possible that humans have developed recent biological ...

Public Library of Science2015

Defining the role of common variation in the genomic and biological architecture of adult human height

Paul Jack Mc Laren, Jiancheng Yang, Murielle Bochud, Jian Yang

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that th ...

Nature Publishing Group2014