A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

Autor: Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson

Publikováno v: PLoS Genetics, Vol 10, Iss 5, p e1004359 (2014)

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 variably nephrop

Externí odkaz: https://doaj.org/article/dc810faba09b405ebb5e4373b5094526

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Autor: Natalie J. Prescott, Elizabeth Bentley, Paul Rutland, Brandon J. Wainwright, John Nelson, Bronwyn Kerr, Susan M. Darling, Vile Makela, Robert F. Mueller, Shalini Jadeja, Christine Francannet, Lesley M McGregor, Antonio Perez-Aytes, Emma Roberts, André Mégarbané, Jason Hopkins, Sofia Vrontou, Adrian S. Woolf, Alison Shaw, Nicole Philip, Nicola Smart, Robin M. Winter, Georges Chalepakis, Peter J. Scambler, Catherine Roberts

Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects(1). Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833c0b6f42fd08a3c2eba17bfad55cf0
https://ora.ox.ac.uk/objects/uuid:eb05386f-688d-4290-b079-8a0fb29df60f

A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

Autor: Shalini Jadeja, Margaret A. Keighren, Richard S. Smith, Sally H. Cross, Rob van't Hof, Katrine West, Ian J. Jackson, Alison L. Kearney, Danilo G. Macalinao, Gareth R. Howell, Joe Rainger, Simon W. M. John, Morag Robertson, Stephen C. Kneeland, Lisa McKie, Caroline Thaung, Lorraine Rose, Fiona Young

Publikováno v: Cross, S H, Macalinao, D G, McKie, L, Rose, L, Kearney, A L, Rainger, J, Thaung, C, Keighren, M, Jadeja, S, West, K, Kneeland, S C, Smith, R S, Howell, G R, Young, F, Robertson, M, van t' Hof, R, John, S W M & Jackson, I J 2014, ' A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation ', PLoS Genetics, vol. 10, no. 5, e1004359 . https://doi.org/10.1371/journal.pgen.1004359
PLOS GENETICS

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 variably nephrop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::487b33befe5e723a486cf1eea8ee358e
https://hdl.handle.net/20.500.11820/6cc59846-1ba7-4024-8c9d-1d6678e890a0

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]

Autor: Sally H, Cross, Danilo G, Macalinao, Lisa, McKie, Lorraine, Rose, Alison L, Kearney, Joe, Rainger, Caroline, Thaung, Margaret, Keighren, Shalini, Jadeja, Katrine, West, Stephen C, Kneeland, Richard S, Smith, Gareth R, Howell, Fiona, Young, Morag, Robertson, Rob, van T' Hof, Simon W M, John, Ian J, Jackson

Publikováno v: PLoS Genetics

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 variably nephrop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::09d9ea778f2271e46040a476402514cc
https://pubmed.ncbi.nlm.nih.gov/24809698

Efficient, inducible Cre-recombinase activation in vascular endothelium

Autor: Marcus Fruttiger, Kairbaan Hodivala-Dilke, Suzanne Claxton, Vassiliki Kostourou, Shalini Jadeja, Pierre Chambon

Publikováno v: Genesis
Genesis, Wiley-Blackwell, 2008, 46 (2), pp.74-80. ⟨10.1002/dvg.20367⟩

In recent years, gene-targeting studies in mice have elucidated many molecular mechanisms in vascular biology. However, it has been difficult to apply this approach to the study of postnatal animals because mutations affecting the vasculature are oft

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31edfbf76531773a5cbcddced817f60
https://hal.archives-ouvertes.fr/hal-00282602