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The Journal of Biological Chemistry|April 15, 1990
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VIIM K Wirtz, D R Keene, H Hori, et al.
The Journal of Investigative Dermatology|August 21, 2001
Human dermal fibroblasts express prohormone convertases 1 and 2 and produce proopiomelanocortin-derived peptidesM Schiller, M Raghunath, U Kubitscheck, et al.
Materials Science & Engineering. C, Materials for Biological Applications|December 15, 2015
In vitro and in vivo studies of biodegradable fine grained AZ31 magnesium alloy produced by equal channel angular pressingB Ratna Sunil, T S Sampath Kumar, Uday Chakkingal, et al.
Biochimica Et Biophysica Acta|February 26, 1999
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defectsJ T Lam, M G Martín, E Turk, et al.
Clinical Genetics|March 1, 1984
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorderH M Sulh, B Steinmann, V H Rao, et al.
International Journal of Oncology|February 17, 2000
Autocrine secreted insulin-like growth factor-I stimulates MAP kinase-dependent mitogenic effects in human primitive neuroectodermal tumor/medulloblastomaR Patti, C D Reddy, B Geoerger, et al.
American Journal of Human Genetics|April 25, 2000
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSR J Wenstrup, J B Florer, M C Willing, et al.
The Journal of Cell Biology|April 18, 1998
The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrilsC M Kielty, M Raghunath, L D Siracusa, et al.
The Journal of Clinical Investigation|January 1, 1997
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemiaM Bai, S H Pearce, O Kifor, et al.
Human Genetics|December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasiaA Rossi, H J van der Harten, F A Beemer, et al.
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