Sally H Cross
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Explore the profile of Sally H Cross including associated specialties, affiliations and a list of published articles.
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25
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727
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Recent Articles
1.
Tolman N, Balasubramanian R, Macalinao D, Kearney A, MacNicoll K, Montgomery C, et al.
Dis Model Mech
. 2021 Jan;
14(2).
PMID: 33462143
Variants in the LIM homeobox transcription factor 1-beta () gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for glaucoma. However, the effect of mutations varies widely...
2.
Cross S, McKie L, Hurd T, Riley S, Wills J, Barnard A, et al.
PLoS Genet
. 2020 Apr;
16(4):e1008583.
PMID: 32236127
The precise control of eye size is essential for normal vision. TMEM98 is a highly conserved and widely expressed gene which appears to be involved in eye size regulation. Mutations...
3.
Findlay A, McKie L, Keighren M, Clementson-Mobbs S, Sanchez-Pulido L, Wells S, et al.
Sci Rep
. 2020 Jan;
10(1):437.
PMID: 31949211
Fam151b is a mammalian homologue of the C. elegans menorin gene, which is involved in neuronal branching. The International Mouse Phenotyping Consortium (IMPC) aims to knock out every gene in...
4.
Cross S, McKie L, Keighren M, West K, Thaung C, Davey T, et al.
Invest Ophthalmol Vis Sci
. 2019 Jul;
60(8):2875-2887.
PMID: 31266059
Purpose: We previously found a dominant mutation, Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to be Tmem98. In humans, mutations...
5.
Findlay A, Carter R, Starbuck B, McKie L, Novakova K, Budd P, et al.
Dis Model Mech
. 2018 Nov;
11(12).
PMID: 30478029
Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made...
6.
Potter P, Bowl M, Jeyarajan P, Wisby L, Blease A, Goldsworthy M, et al.
Nat Commun
. 2016 Aug;
7:12444.
PMID: 27534441
Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we...
7.
Parker A, Cross S, Jackson I, Hardisty-Hughes R, Morse S, Nicholson G, et al.
Dis Model Mech
. 2015 Nov;
8(12):1555-68.
PMID: 26542706
Mitogen-activated protein kinase, MAP3K1, plays an important role in a number of cellular processes, including epithelial migration during eye organogenesis. In addition, studies in keratinocytes indicate that MAP3K1 signalling through...
8.
Jadeja S, Barnard A, McKie L, Cross S, White J, Robertson M, et al.
Invest Ophthalmol Vis Sci
. 2015 Mar;
56(5):3015-26.
PMID: 25736793
Purpose: As part of a large scale systematic screen to determine the effects of gene knockout mutations in mice, a retinal phenotype was found in mice lacking the Slc9a8 gene,...
9.
Cross S, Macalinao D, McKie L, Rose L, Kearney A, Rainger J, et al.
PLoS Genet
. 2014 May;
10(5):e1004359.
PMID: 24809698
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and...
10.
Lian G, Lu J, Hu J, Zhang J, Cross S, Ferland R, et al.
J Neurosci
. 2012 Jun;
32(22):7672-84.
PMID: 22649246
Cytoskeleton-associated proteins play key roles not only in regulating cell morphology and migration but also in proliferation. Mutations in the cytoskeleton-associated gene filamin A (FlnA) cause the human disorder periventricular...