Publicaciones (18) Publicaciones de Martín Franke

2024

  1. Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism

    Frontiers in Endocrinology, Vol. 15

  2. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

    Genome Medicine, Vol. 16, Núm. 1

2023

  1. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

    Nature Communications, Vol. 14, Núm. 1

  2. Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 (Nature Communications, (2023), 14, 1, (1475), 10.1038/s41467-023-37057-z)

    Nature Communications

2022

  1. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

    American Journal of Human Genetics, Vol. 109, Núm. 4, pp. 553-570

  2. Gain of gene regulatory network interconnectivity at the origin of vertebrates

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 11

  3. Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer

    Frontiers in immunology, Vol. 13, pp. 901747

2021

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

    Nature Communications, Vol. 12, Núm. 1

  2. Position effects at the FGF8 locus are associated with femoral hypoplasia

    American Journal of Human Genetics, Vol. 108, Núm. 9, pp. 1725-1734

2019

  1. Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

    Nature Genetics, Vol. 51, Núm. 8, pp. 1263-1271

2018

  1. An evolutionary perspective of regulatory landscape dynamics in development and disease

    Current Opinion in Cell Biology, Vol. 55, pp. 24-29

  2. Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

    Nature Genetics, Vol. 50, Núm. 10, pp. 1463-1473

2016

  1. Formation of new chromatin domains determines pathogenicity of genomic duplications

    Nature, Vol. 538, Núm. 7624, pp. 265-269

2015

  1. Deletions, inversions, duplications: Engineering of structural variants using CRISPR/Cas in mice

    Cell Reports, Vol. 10, Núm. 5, pp. 833-839

  2. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

    Cell, Vol. 161, Núm. 5, pp. 1012-1025

  3. MiR-21 is required for efficient kidney regeneration in fish

    BMC Developmental Biology, Vol. 15, Núm. 1

2012

  1. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

    American Journal of Human Genetics, Vol. 91, Núm. 4, pp. 629-635

2011

  1. Transduction of peptides and proteins into live cells by cell penetrating peptides

    Journal of Cellular Biochemistry, Vol. 112, Núm. 12, pp. 3824-3833