Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Liat Samuelov, Ofer Sarig, Robert M. Harmon, +22

Nature Genetics

AllergyAutoimmune DiseaseAtopic DermatitisDesmoglein 1Allergen +7

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren, +12

The American Journal of Human Genetics

Snare Protein InvolvedNeuromuscular JunctionCerebral DysgenesisDevelopmental BiologyScleroderma +10

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

Mayana Zatz, Debora Rapaport, Mariz Vainzof, +4

Journal of the Neurological Sciences

Muscle FunctionBiochemistrySkeletal MuscleMedicinePhysiology +5

EHD1 regulates β1 integrin endosomal transport: effects on focal adhesions, cell spreading and migration

Marko Jović, Naava Naslavsky, Debora Rapaport, +2

Journal of Cell Science

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, +17

The American Journal of Human Genetics

Cutis LaxaPathologyDermatologyMacs SyndromeMedicine +2

The DNA Sequence of the RK Strain of Human Herpesvirus 7

A. George Megaw, Debora Rapaport, Boaz Avidor, +2

Virology

Molecular VirologyMedicinePathogenesisMolecular BiologyVirology +7

EHD3: A Protein That Resides in Recycling Tubular and Vesicular Membrane Structures and Interacts with EHD1

Emilia Galperin, Sigi Benjamin, Debora Rapaport, +3

Traffic

Recycling to the Plasma Membrane is Delayed in EHD1 Knockout Mice

Debora Rapaport, Wojtek Auerbach, Naava Naslavsky, +6

Traffic

Ehd1 Knockout MiceImmunologyCellular PhysiologyCell InteractionMembrane Transport +16

Characterization and cell type distribution of a novel, major transcript of the Duchenne Muscular Dystrophy gene

Debora Rapaport, Doron Lederfein, Johan T. den Dunnen, +5

Differentiation

Skeletal MuscleGeneticsMajor TranscriptGene StructureDegenerative Disease +8

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

Debora Rapaport, Maria Rita Passos‐Bueno, Lydia Brandão, +3

American Journal of Medical Genetics