Achondroplasia research, articles, guidelines & medical evidence database search.
Access the latest scientific research and medical evidence related to Achondroplasia treatment, diagnosis and symptoms, quickly and easily with doctorAsyou.
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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 18 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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Research
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.
Casanova Jean-Laurent, Su Helen C
Cell Vol 181(6)
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Date 11 Jun 2020
Research
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
Shiang R, Thompson L M, Zhu Y Z, Church D M, Fielder T J ...
Cell Vol 78(2)
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Date 29 Jul 1994
Research
Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning.
Kondrashov Nadya, Pusic Aya, Stumpf Craig R, Shimizu Kunihiko, Hsieh Andrew C ...
Cell Vol 145(3)
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Date 29 Apr 2011
Research
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Vikkula M, Mariman E C, Lui V C, Zhidkova N I, Tiller G E ...
Cell Vol 80(3)
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Date 10 Feb 1995
Research
MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover.
Holmbeck K, Bianco P, Caterina J, Yamada S, Kromer M ...
Cell Vol 99(1)
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Date 01 Oct 1999
Research
Fibroblast growth factor receptor 3 is a negative regulator of bone growth.
Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P
Cell Vol 84(6)
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Date 22 Mar 1996
Research
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello Roy, Bertin Terry K, Chen Yuqing, Hicks John, Tonachini Laura ...
Cell Vol 127(2)
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Date 20 Oct 2006
Research
Impaired intracellular transport of class I MHC antigens as a possible means for adenoviruses to evade immune surveillance.
Andersson M, Pääbo S, Nilsson T, Peterson P A
Cell Vol 43(1)
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Date 01 Nov 1985
Research
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C ...
Cell Vol 104(2)
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Date 26 Jan 2001
Research
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
Hästbacka J, de la Chapelle A, Mahtani M M, Clines G, Reeve-Daly M P ...
Cell Vol 78(6)
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Date 23 Sep 1994
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