Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
F Rutsch, N Ruf, S Vaingankar, MR Toliat, A Suk… - Nature …, 2003 - nature.com
Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification
of the internal elastic lamina of muscular arteries and stenosis due to myointimal …
of the internal elastic lamina of muscular arteries and stenosis due to myointimal …
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
NAD (P) H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity
L Wojnowski, B Kulle, M Schirmer, G Schlüter… - Circulation, 2005 - Am Heart Assoc
Background—A significant number of patients treated with anthracyclines develop
cardiotoxicity (anthracycline-induced cardiotoxicity [ACT]), mainly presenting as arrhythmias …
cardiotoxicity (anthracycline-induced cardiotoxicity [ACT]), mainly presenting as arrhythmias …
[HTML][HTML] Wnt signaling and Dupuytren's disease
GH Dolmans, PM Werker, HC Hennies… - … England Journal of …, 2011 - Mass Medical Soc
Background Dupuytren's disease is a benign fibromatosis of the hands and fingers that
leads to flexion contractures. We hypothesized that multiple genetic and environmental …
leads to flexion contractures. We hypothesized that multiple genetic and environmental …
Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients
TAM Claushuis, LA van Vught… - Blood, The Journal …, 2016 - ashpublications.org
Preclinical studies have suggested that platelets influence the host response during sepsis.
We sought to assess the association of admission thrombocytopenia with the presentation …
We sought to assess the association of admission thrombocytopenia with the presentation …
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
BS Budde, Y Namavar, PG Barth, BT Poll-The… - Nature …, 2008 - nature.com
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal
recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia …
recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia …
Laminin-α4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells
R Knöll, R Postel, J Wang, R Krätzner… - Circulation, 2007 - Am Heart Assoc
Background—Extracellular matrix proteins, such as laminins, and endothelial cells are
known to influence cardiomyocyte performance; however, the underlying molecular …
known to influence cardiomyocyte performance; however, the underlying molecular …
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
J Schubert, A Siekierska, M Langlois, P May… - Nature …, 2014 - nature.com
Abstract Febrile seizures affect 2–4% of all children and have a strong genetic component.
Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2),, have been …
Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2),, have been …
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
F Rutsch, S Gailus, IR Miousse, T Suormala, C Sagné… - Nature …, 2009 - nature.com
Vitamin B12 (cobalamin) is essential in animals for metabolism of branched chain amino
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
CA Martin, I Ahmad, A Klingseisen, MS Hussain… - Nature …, 2014 - nature.com
Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes
have been reported in primary microcephaly and Seckel syndrome, disorders without the …
have been reported in primary microcephaly and Seckel syndrome, disorders without the …