Karl Sperling
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View article: A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes Open
View article: Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans Open
View article: A transgenerational mutational signature from ionizing radiation exposure
A transgenerational mutational signature from ionizing radiation exposure Open
The existence of transgenerational effects of accidental radiation exposure on the human germline remains controversial. Evidence for transgenerational biomarkers are of particular interest for populations, who have been exposed to higher …
View article: Population monitoring of trisomy 21: problems and approaches
Population monitoring of trisomy 21: problems and approaches Open
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: Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4 Open
View article: Ein holistisches Gesundheitskonzept: Die Evolutionäre Medizin
Ein holistisches Gesundheitskonzept: Die Evolutionäre Medizin Open
EvolutionaryM edicine and its Holistic Concept of Health.Recent years have seen tremendous advances in our understanding of biological processes on genomic, cellular,a nd evolutionary levels.We owe this progress in great part to moderng en…
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…
Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA Open
View article: Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation Open
View article: Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome Open
Background: Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part…
View article: Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants
Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants Open
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: Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger‐Huët‐anomaly and treated with colchicine
Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger‐Huët‐anomaly and treated with colchicine Open
The nuclear morphology of neutrophils depends on different endogenous and exogenous factors, which can lead to hypo‐ or hypersegmentation of the normally 2–4 segmented nucleus. Hyposegmentation can be due to mutations in the LBR‐ gene (Pel…
View article: Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application Open
View article: 5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac
5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac Open
Two 5-methylcytosine (5-MeC)-rich heterochromatic regions were demonstrated in metaphase chromosomes of the Indian muntjac by indirect immunofluorescence using a monoclonal anti-5-MeC antibody. The metaphases were obtained from diploid and…