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in Mol Autism

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

H.G. Kim et al.
in PLoS ONE

eNOS-NO-induced small blood vessel relaxation requires EHD2-dependent caveolae stabilization

C. Matthaeus et al.
in Nature

Structure and assembly of the mitochondrial membrane remodelling GTPase Mgm1

K. Faelber et al.
in Front Med

Pathophysiological role of caveolae in hypertension

X. Lian et al.
in Front Neurol

Linkage evidence for a two-locus inheritance of LQT-associated seizures in a multigenerational LQT family with a novel KCNQ1 loss-of-function mutation

H. Prüss et al.
in Cell Rep

SorCS2 controls functional expression of amino acid transporter EAAT3 and protects neurons from oxidative stress and epilepsy-induced pathology

A.R. Malik et al.
in J Allergy Clin Immunol

Eleven loci with new reproducible genetic associations with allergic disease risk

M.A. Ferreira et al.
in J Allergy Clin Immunol

Evaluation of food allergy candidate loci in the Genetics of Food Allergy Study

I. Marenholz et al.
in Nat Genet

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

J. Waage et al.
in J Invest Dermatol

SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility

C. Günther et al.