Sequence requirements for nuclear location of simian virus 40 large-T antigen

D Kalderon, WD Richardson, AF Markham, AE Smith - Nature, 1984 - nature.com
A point mutation in the simian virus 40 large-T gene, which was generated by mixed
oligonucleotide mutagenesis and resulted in the conversion of Lys 128 to Thr, produced a …

ASPM is a major determinant of cerebral cortical size

J Bond, E Roberts, GH Mochida, DJ Hampshire… - Nature …, 2002 - nature.com
One of the most notable trends in mammalian evolution is the massive increase in size of the
cerebral cortex, especially in primates. Humans with autosomal recessive primary …

[PDF][PDF] Identification of microcephalin, a protein implicated in determining the size of the human brain

AP Jackson, H Eastwood, SM Bell, J Adu… - The American Journal of …, 2002 - cell.com
Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental
condition in which there is a global reduction in cerebral cortex volume, to a size …

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

AB McKie, JC McHale, TJ Keen… - Human molecular …, 2001 - academic.oup.com
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by
progressive degeneration of the peripheral retina leading to night blindness and loss of …

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

S Uppal, CP Diggle, IM Carr, CWG Fishwick… - Nature …, 2008 - nature.com
Digital clubbing, recognized by Hippocrates in the fifth century bc, is the outward hallmark of
pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to …

[PDF][PDF] Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

JA Poulter, M Ali, DF Gilmour, A Rice, H Kondo… - The American Journal of …, 2010 - cell.com
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal
vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to …

Reduced expression of oestrogen receptor β in invasive breast cancer and its re‐expression using DNA methyl transferase inhibitors in a cell line model

GP Skliris, K Munot, SM Bell, PJ Carder… - The Journal of …, 2003 - Wiley Online Library
To gain insights into the possible role of oestrogen receptor (ER) β in breast carcinogenesis,
immunohistochemical analysis of ER β was performed on 512 breast specimens …

Dysregulated lymphocyte proliferation and differentiation in patients with rheumatoid arthritis

F Ponchel, AW Morgan, SJ Bingham… - Blood, The Journal …, 2002 - ashpublications.org
Rheumatoid arthritis (RA) is a chronic, inflammatory disease of the synovium of uncertain
pathogenesis. A number of phenotypic and functional T-cell defects have been described in …

[PDF][PDF] Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

AP Jackson, DP McHale, DA Campbell, H Jafri… - The American Journal of …, 1998 - cell.com
Summary Primary (or" true") microcephaly is inherited as an autosomal recessive trait and is
thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a …

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

C Toomes, NJ Marchbank, DA Mackey… - Human molecular …, 2001 - academic.oup.com
Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy.
Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the …