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Ernst Reichenberger
Ernst Reichenberger
UConn Health
Verified email at uchc.edu
Title
Cited by
Cited by
Year
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
Y Ueki, V Tiziani, C Santanna, N Fukai, C Maulik, J Garfinkle, C Ninomiya, ...
Nature genetics 28 (2), 125-126, 2001
4232001
Clinical genetics of familial keloids
AG Marneros, JEC Norris, BR Olsen, E Reichenberger
Archives of dermatology 137 (11), 1429-1434, 2001
3832001
Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11
AG Marneros, JEC Norris, S Watanabe, E Reichenberger, BR Olsen
Journal of Investigative Dermatology 122 (5), 1126-1132, 2004
2772004
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
E Reichenberger, V Tiziani, S Watanabe, L Park, Y Ueki, C Santanna, ...
The American Journal of Human Genetics 68 (6), 1321-1326, 2001
2112001
Cherubism: best clinical practice
ME Papadaki, SA Lietman, MA Levine, BR Olsen, LB Kaban, ...
Orphanet journal of rare diseases 7, 1-14, 2012
1982012
Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 “cherubism” mice
Y Ueki, CY Lin, M Senoo, T Ebihara, N Agata, M Onji, Y Saheki, T Kawai, ...
Cell 128 (1), 71-83, 2007
1962007
Type X collagen expression in osteoarthritic and rheumatoid articular cartilage
T Aigner, E Reichenberger, W Bertling, T Kirsch, H Stöss, K Von der Mark
Virchows Archiv B 63, 205-211, 1993
1831993
In situ hybridization studies on the expression of type X collagen in fetal human cartilage
E Reichenberger, T Aigner, K Von Der Mark, H Stöss, W Bertling
Developmental biology 148 (2), 562-572, 1991
1681991
A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice
DK Rieger, E Reichenberger, W McLean, A Sidow, BR Olsen
Genomics 72 (1), 61-72, 2001
1532001
The gene for cherubism maps to chromosome 4p16
V Tiziani, E Reichenberger, CL Buzzo, S Niazi, N Fukai, M Stiller, ...
The American Journal of Human Genetics 65 (1), 158-166, 1999
1501999
The role of SH3BP2 in the pathophysiology of cherubism
EJ Reichenberger, MA Levine, BR Olsen, ME Papadaki, SA Lietman
Orphanet Journal of Rare Diseases 7, 1-12, 2012
1142012
Activation of NFκB signal pathways in keloid fibroblasts
DV Messadi, HS Doung, Q Zhang, AP Kelly, TL Tuan, E Reichenberger, ...
Archives of dermatological research 296, 125-133, 2004
1092004
3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions
N Levaot, PD Simoncic, ID Dimitriou, A Scotter, J La Rose, AHM Ng, ...
The Journal of clinical investigation 121 (8), 3244-3257, 2011
782011
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia
Y Hu, IP Chen, S de Almeida, V Tiziani, CMR Do Amaral, K Gowrishankar, ...
PloS one 8 (8), e73576, 2013
752013
Mutations in KCTD1 cause scalp-ear-nipple syndrome
AG Marneros, AE Beck, EH Turner, MJ McMillin, MJ Edwards, M Field, ...
The American Journal of Human Genetics 92 (4), 621-626, 2013
692013
SH3BP2 Cherubism Mutation Potentiates TNF‐α–Induced Osteoclastogenesis via NFATc1 and TNF‐α–Mediated Inflammatory Bone Loss
T Mukai, S Ishida, R Ishikawa, T Yoshitaka, M Kittaka, R Gallant, YL Lin, ...
Journal of Bone and Mineral Research 29 (12), 2618-2635, 2014
682014
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia
IP Chen, K Fukuda, N Fusaki, A Iida, M Hasegawa, A Lichtler, ...
Cellular Reprogramming (Formerly" Cloning and Stem Cells") 15 (6), 503-513, 2013
622013
Saliva as a source of genomic DNA for genetic studies: review of current methods and applications
F Sun, EJ Reichenberger
Oral Health Dent Manag 13 (2), 217-22, 2014
602014
Genomic organization and full‐length cDNA sequence of human collagen X
E Reichenberger, F Beier, P LuValle, BR Olsen, K von der Mark, ...
FEBS letters 311 (3), 305-310, 1992
601992
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)
IP Chen, L Wang, X Jiang, HL Aguila, EJ Reichenberger
Human molecular genetics 20 (5), 948-961, 2011
572011
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