Background Short-chain enoyl-CoA hydratase—ECHS1—catalyses many metabolic pathways, including mitochondrial short-chain fatty acid β-oxidation and branched-chain amino acid catabolic pathways; however ...

2 Division of Human Genetics, Southampton Medical School, University of Southampton, Southampton, UK 3 Division of Cancer Sciences, Southampton Medical School, University of Southampton, Southampton, ...

Purpose Facioscapulohumeral muscular dystrophy (FSHD) is a common adult muscular dystrophy. Over 95% of FSHD cases are associated with contraction of the D4Z4 tandem repeat (~3.3 kb per unit) at 4q35 ...

Correspondence to: Gudrun A Rappold PhD, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany; gudrun.rappold{at}med.uni-heidelberg.de Methods: To ...

Pain perception is a vital protective mechanism.1 However, chronic pain, maladaptive and persistent, constitutes a major disease burden.2 Reliance on opioid analgesics is fraught with risks of ...

Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the ...

1 Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA 2 Department of Psychiatry and Department of Preventive Medicine, Keck School ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal ...

A pericentric inv(11) (pl5q23) detectable by G-, Q-, and R-banding and occuring in 1 member of each of 3 generations of a family is described. In another family studied by several banding methods in ...

Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinic, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA Correspondence to: Dr M G ...