Associated Papers
Biochemical and structural studies of NFIA and NFIC reveal a conserved mechanism for specific DNA recognition and provide insight into potential pathogenicity of disease-associated mutations.
Pan S et al.
Acta Biochimica Et Biophysica Sinica, 2025
Structural basis of Nuclear Factor 1-X DNA recognition provides prototypic insight into the NFI family.
Tiberi M et al.
Nature Communications, 2025
Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency.
Zhou Y et al.
Frontiers in Genetics, 2025
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I et al.
American Journal of Human Genetics, 2018
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M et al.
European Journal of Human Genetics : Ejhg, 2015
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D et al.
Human Mutation, 2014
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
Natiq A et al.
Molecular Cytogenetics, 2014
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Yoneda Y et al.
Journal of Human Genetics, 2012
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