Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

Volume 3 (2007), Issue 4 (April)

1. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
   J Med Genet, 44(4): 264-8. [Abstract] [Full-text]
2. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
   J Med Genet, 44(4): e73. [Abstract] [Full-text]
3. Defining normalcy of the somatotropic axis: an attainable goal?
   Pituitary. [Abstract] [Full-text]
4. Transgenic rice plants ectopically expressing AtBAK1 are semi-dwarfed and hypersensitive to 24-epibrassinolide.
   J Plant Physiol, 164(5): 655-64. [Abstract] [Full-text]
5. Increased expression of p53 enhances transcription-coupled repair and global genomic repair of a UVC-damaged reporter gene in human cells.
   DNA Repair (Amst), 6(5): 588-601. [Abstract] [Full-text]
6. Obese adults with primary growth hormone resistance (Laron Syndrome) have normal endothelial function.
   Growth Horm IGF Res, 17(2): 165-70. [Abstract] [Full-text]
7. Indian Hedgehog produced by postnatal chondrocytes is essential for maintaining a growth plate and trabecular bone.
   Proc Natl Acad Sci U S A, 104(15): 6382-7. [Abstract] [Full-text]
8. Development of the post-natal growth plate requires intraflagellar transport proteins.
   Dev Biol, 305(1): 202-16. [Abstract] [Full-text]
9. Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.
   Neurology, 68(17): 1369-73. [Abstract] [Full-text]
10. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
    Neuroscience, 145(4): 1388-96. [Abstract] [Full-text]
11. The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum.
    Neuroscience, 145(4): 1407-17. [Abstract] [Full-text]
12. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
    Neuroscience, 145(4): 1397-406. [Abstract] [Full-text]
13. Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair.
    Neuroscience, 145(4): 1300-8. [Abstract] [Full-text]
14. Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression.
    Am J Pathol. [Abstract] [Full-text]
15. Activating transcription factor 2 controls Bcl-2 promoter activity in growth plate chondrocytes.
    J Cell Biochem, 101(2): 477-87. [Abstract] [Full-text]
16. Adiposity profile in the dwarf rat: an unusually lean model of profound growth hormone deficiency.
    Am J Physiol Endocrinol Metab, 292(5): E1483-94. [Abstract] [Full-text]
17. The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.
    Am J Med Genet A, 143(9): 995-8. [Abstract] [Full-text]
18. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
    Eur J Endocrinol, 156(5): 521-9. [Abstract] [Full-text]
19. Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes.
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 103(5): 670-6. [Abstract] [Full-text]
20. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.
    Mol Cell, 26(2): 231-43. [Abstract] [Full-text]
21. New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability.
    Mol Cell, 26(2): 162-4. [Abstract] [Full-text]
22. Laminectomies and achondroplasia: does body mass index influence surgical outcomes?
    Am J Med Genet A, 143(10): 1032-7. [Abstract] [Full-text]

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