A minimal intron length but no specific internal sequence is required for splicing the large rabbit β-globin intron

B. Wieringa, Erhard Hofer, Charles Weissmann

Cell

Natural SciencesGeneticsRna SplicingSpecific Internal SequenceMolecular Biology +7

Altered Ca2+ Responses in Muscles with Combined Mitochondrial and Cytosolic Creatine Kinase Deficiencies

Karen Steeghs, Ad A.G.M. Benders, Frank Oerlemans, +12

Cell

Combined MitochondrialMuscle FunctionSignal TransductionMuscle InjuryMitochondrial Function +9

Localization of the gene encoding the α₂/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families

David Iles, F. Lehmann‐Horn, Stephen W. Scherer, +10

Human Molecular Genetics

Muscle FunctionSignal TransductionMolecular PhysiologySkeletal MuscleGenetic Disorder +12

SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking

H.O.F. Molhuizen, Hans Alkemade, Patrick L.J.M. Zeeuwen, +3

Journal of Biological Chemistry

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome

G.J.B. van Ommen, Annemieke J.M.H. Verkerk, Marten H. Hofker, +7

Cell

ChromatinDevelopmental BiologyMendelian DisorderCytogeneticsGenetic Disorder +6

Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs

Gert Jansen, Mani S. Mahadevan, Chris T. Amemiya, +15

Nature Genetics

Natural SciencesGeneticsMolecular BiologyDegenerative DiseaseMyotonic Dystrophy Region +2

Evidence against a scanning model of RNA splicing.

Thomas D. Kühne, B. Wieringa, Jakob Reiser, +1

The EMBO Journal

Natural SciencesGeneticsRna SplicingMolecular BiologyRna Transport +5

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

A. Gal, B. Wieringa, D F Smeets, +2

Cytogenetic and Genome Research

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationEpigenetics +15

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

J A van den Hurk, T J van de Pol, C M Molloy, +7

PubMed

Tissue- and cell-specific distribution of creatine kinase B: A new and highly specific monoclonal antibody for use in immunohistochemistry

Erik A. Sistermans, Yvette J.M. de Kok, Wilma Peters, +3

Cell and Tissue Research

Immunocytochemical TechniqueSignal TransductionAutoimmune DiseaseSpecific Monoclonal AntibodyReceptor Tyrosine Kinase +11