Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel, +32

New England Journal of Medicine

Gene expression profiling of parkinsonian substantia nigra pars compacta; alterations in ubiquitin-proteasome, heat shock protein, iron and oxidative stress regulated proteins, cell adhesion/cellular matrix and vesicle trafficking genes

E. Gr�nblatt, Silvia Mandel, Jasmine Jacob‐Hirsch, +8

Journal of Neural Transmission

Heat Shock ProteinMitophagyProtein FunctionMedicineNatural Sciences +6

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

Libi Hertzberg, Elena Vendramini, Ithamar Ganmore, +21

Blood

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Ruth Belostotsky, Efrat Ben‐Shalom, Choni Rinat, +7

The American Journal of Human Genetics

UrologyMitochondrial BiogenesisMitochondrial FunctionGenetic DisorderMedicine +10

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

David Zangen, Yotam Kaufman, Sharon Zeligson, +9

The American Journal of Human Genetics

Developmental BiologyOogenesisPsmc3ip/hop2 MutationGeneticsEstrogen-driven Transcription +11

Essential Role of <i>BRCA2</i> in Ovarian Development and Function

Ariella Weinberg‐Shukron, Marianna Rachmiel, Paul Renbaum, +14

New England Journal of Medicine

Copy number variations in cryptogenic cerebral palsy

Reeval Segel, Hilla Ben‐Pazi, Sharon Zeligson, +10

Neurology

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

Ariella Weinberg‐Shukron, Paul Renbaum, Rachel Kalifa, +12

Journal of Clinical Investigation

SpermatogenesisCytogeneticsGeneticsGenomic MechanismMolecular Biology +18

CD133‐Positive Hematopoietic Stem Cell “Stemness” Genes Contain Many Genes Mutated or Abnormally Expressed in Leukemia

Amos Toren, Bella Bielorai, Jasmine Jacob‐Hirsch, +11

Stem Cells

Identification of IRF-8 and IRF-1 target genes in activated macrophages

Natalie Dror, Michal Alter-Koltunoff, Aviva Azriel, +9

Molecular Immunology

InflammationMacrophage BiologyMolecular ImmunologyCytokineSignal Transduction +8