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View article: The <i>NBN</i> founder mutation—Evidence for a country specific difference in age at cancer manifestation
The <i>NBN</i> founder mutation—Evidence for a country specific difference in age at cancer manifestation Open
Background Nijmegen breakage syndrome (NBS) is an autosomal‐recessive chromosome instability disorder characterized by, among others, hypersensitivity to X‐irradiation and an exceptionally high risk for lymphoid malignancy. The vast majori…
View article: Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome Open
We studied TL and function in 38 homozygous individuals, 27 heterozygotes, one homozygous fetus, six NBS lymphoblastoid cell lines, and humanized NBS mice, all with the same founder NBN mutation: c.657_661del5.
View article: Nijmegen Breakage Syndrome (NBS) is a Telomeropathy: Analysis of Telomere Length in NBS Homo- and Heterozygotes and Humanized Nbs Mice
Nijmegen Breakage Syndrome (NBS) is a Telomeropathy: Analysis of Telomere Length in NBS Homo- and Heterozygotes and Humanized Nbs Mice Open
The autosomal recessive genetic disorder Nijmegen breakage syndrome (NBS) is characterized by a defect in DNA double-strand break repair protein nibrin and chromosome instability associated with a high predisposition to cancer. Here we hyp…
View article: The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? Open
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populati…
View article: Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome Open
The RASopathies constitute a family of autosomal-dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibil…