Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Bart Loeys, Ulrike Schwarze, Tammy M. Holm, +18

New England Journal of Medicine

Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga, +1

New England Journal of Medicine

CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

Roy Morello, Terry Bertin, Yuqing Chen, +17

Cell

SclerostinDevelopmental BiologyBone Morphogenic ProteinGeneticsProlyl 3- Hydroxylation +4

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Alain Colige, Aleksander L. Sieroń, Shi-Wu Li, +11

The American Journal of Human Genetics

Autoimmune DiseaseDisease MechanismGenetic DisorderImmunodeficienciesPathogenesis +9

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, +7

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsMissense MutationOsteogenesis +4

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

Melanie Pepin, Ulrike Schwarze, Kenneth Rice, +3

Genetics in Medicine

Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics +8

Gene Targeting in Stem Cells from Individuals with Osteogenesis Imperfecta

Joel R. Chamberlain, Ulrike Schwarze, Pei-Rong Wang, +8

Science

Tissue EngineeringAdult Stem CellImmunologyBone RepairOsteogenesis +16

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

Dustin Baldridge, Ulrike Schwarze, Roy Morello, +22

Human Mutation

SclerostinGeneticsUnfolded CollagenPathologyOsteogenesis +16

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Andreas Winterpacht, Matthias Hilbert, Ulrike Schwarze, +3

Nature Genetics

Stickler Dysplasia PhenotypesFibrosisMendelian DisorderGenetic DisorderGenetics +7

Multicenter Clinicopathologic Correlation of Kidney Biopsies Performed in COVID-19 Patients Presenting With Acute Kidney Injury or Proteinuria

Shreeram Akilesh, Cynthia C. Nast, M Yamashita, +23

American Journal of Kidney Diseases

Glomerular DiseaseGlomerulonephritisUrologyRenal DiseaseRenal Function +9