Martin Franke

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

The paper evaluates the bioinformatic tool POSTRE to distinguish pathogenic from benign GPR101 duplications associated with X-LAG by analyzing enhancer hijacking in a tissue-specific context.

Deep conservation of cis-regulatory elements and chromatin organization in echinoderms uncover ancestral regulatory features of animal genomes

The paper studies regulatory genome evolution in echinoderms, revealing deep conservation of cis-regulatory elements and chromatin organization, suggesting an ancestral regulatory pattern in animal genomes.

Enhancer adoption by an LTR retrotransposongenerates viral-like particles causingdevelopmental limb phenotypes

The paper shows that activation of an LTR retrotransposon in the embryo leads to viral-like particle production, causing limb malformations through apoptotic cell death.

Regulatory architecture of the RCA gene cluster captures an intragenic TAD boundary, CTCF-mediated chromatin looping and a long-range intergenic enhancer

The paper identifies regulatory elements and chromatin structures in the RCA gene cluster, revealing long-range interactions and a TAD boundary within CR1 that influence gene expression and autoimmune disease susceptibility.

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

The paper investigates how genomic rearrangements at the Lbx1/Fgf8 locus cause SHFM3 by altering chromatin structure and gene expression in mice.

CTCF knockout in zebrafish induces alterations in regulatory landscapes and developmental gene expression

This study shows that CTCF knockout in zebrafish disrupts chromatin structure and gene regulation during development, affecting thousands of genes and developmental programs.

Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression

The paper investigates TAD function in mice by editing TAD organization, finding that TADs provide robustness but are not essential for gene regulation, and that disease phenotypes arise from re-direction of regulatory contacts.