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Literature DB >> 28257687

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.

Brendan Lee¹.

Abstract

Mesh：

Year: 2017 PMID： 28257687 PMCID： PMC5339344 DOI： 10.1016/j.ajhg.2017.02.001

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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References

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14 in total

1. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Authors: H C Dietz; G R Cutting; R E Pyeritz; C L Maslen; L Y Sakai; G M Corson; E G Puffenberger; A Hamosh; E J Nanthakumar; S M Curristin
Journal: Nature Date: 1991-07-25 Impact factor: 49.962

2. Partial sequence of a candidate gene for the Marfan syndrome.

Authors: C L Maslen; G M Corson; B K Maddox; R W Glanville; L Y Sakai
Journal: Nature Date: 1991-07-25 Impact factor: 49.962

3. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Authors: Christine M Laine; Kyu Sang Joeng; Philippe M Campeau; Riku Kiviranta; Kati Tarkkonen; Monica Grover; James T Lu; Minna Pekkinen; Maija Wessman; Terhi J Heino; Vappu Nieminen-Pihala; Mira Aronen; Tero Laine; Heikki Kröger; William G Cole; Anna-Elina Lehesjoki; Lisette Nevarez; Deborah Krakow; Cynthia J R Curry; Daniel H Cohn; Richard A Gibbs; Brendan H Lee; Outi Mäkitie
Journal: N Engl J Med Date: 2013-05-09 Impact factor: 91.245

4. Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.

Authors: James T Lu; Philippe M Campeau; Brendan H Lee
Journal: N Engl J Med Date: 2014-08-14 Impact factor: 91.245

5. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Authors: Roy Morello; Terry K Bertin; Yuqing Chen; John Hicks; Laura Tonachini; Massimiliano Monticone; Patrizio Castagnola; Frank Rauch; Francis H Glorieux; Janice Vranka; Hans Peter Bächinger; James M Pace; Ulrike Schwarze; Peter H Byers; MaryAnn Weis; Russell J Fernandes; David R Eyre; Zhenqiang Yao; Brendan F Boyce; Brendan Lee
Journal: Cell Date: 2006-10-20 Impact factor: 41.582

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.

1. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

2. Partial sequence of a candidate gene for the Marfan syndrome.

3. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

4. Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.

5. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

6. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

Review 7. Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.

8. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

9. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

10. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.