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Gail C Jackson

Explore the profile of Gail C Jackson including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 9
Citations 174
Followers 0
Related Specialty
Genetics
Top 10 Co-Authors
Michael D Briggs
Michael J Wright
Geert R Mortier
Rob Elles
William G Cole
Outi Makitie
Valerie Cormier-Daire
Eveliina Jakkula
Andreas Zankl
Luisa Bonafe
Published In
Hum Mutat
Eur J Hum Genet
Am J Med Genet A
Affiliations
Soon will be listed here.
Recent Articles
1.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
Jackson G, Mittaz-Crettol L, Taylor J, Mortier G, Spranger J, Zabel B, et al.
Hum Mutat . 2011 Sep; 33(1):144-57. PMID: 21922596
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED)...
2.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
Jackson G, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor J, Briggs M
Am J Med Genet A . 2010 Apr; 152A(4):863-9. PMID: 20358595
Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease that is characterized by mild short stature and early onset osteoarthritis. Autosomal dominant forms are caused by mutations...
3.
Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3
Fresquet M, Jackson G, Loughlin J, Briggs M
Hum Mutat . 2008 Jan; 29(2):330. PMID: 18205203
Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous chondrodysplasia characterized by mild to moderate short stature and early onset osteoarthritis. Some forms of MED result from mutations...
4.
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family
Tufan A, Lale Satiroglu-Tufan N, Jackson G, Semerci C, Solak S, Yagci B
Eur J Hum Genet . 2007 Jun; 15(10):1023-8. PMID: 17579668
Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination,...
5.
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
Zankl A, Jackson G, Mittaz Crettol L, Taylor J, Elles R, Mortier G, et al.
Eur J Hum Genet . 2006 Nov; 15(2):150-4. PMID: 17133256
Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only...
6.
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
Cotterill S, Jackson G, Leighton M, Wagener R, Makitie O, Cole W, et al.
Hum Mutat . 2005 Nov; 26(6):557-65. PMID: 16287128
Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints,...
7.
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group
Kennedy J, Jackson G, Barker F, Nundlall S, Bella J, Wright M, et al.
Hum Mutat . 2005 May; 25(6):593-4. PMID: 15880723
Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly...
8.
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
Jakkula E, Makitie O, Czarny-Ratajczak M, Czarny-Ratacjzak M, Jackson G, Damignani R, et al.
Eur J Hum Genet . 2004 Nov; 13(3):292-301. PMID: 15523498
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia. Mutations in six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3 and DTDST) have been reported, but the genotype-phenotype correlations and...
9.
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients
Makitie O, Mortier G, Czarny-Ratajczak M, Wright M, Suri M, Rogala P, et al.
Am J Med Genet A . 2004 Mar; 125A(3):278-84. PMID: 14994237
Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have...