Search Results - "Siggs, Owen"

The BTB-ZF transcription factors by Siggs, Owen, Beutler, Bruce

“…The BTB-ZF (broad-complex, tramtrack and bric-à-brac - zinc finger) proteins are encoded by at least 49 genes in mouse and man and commonly serve as…”
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Unravelling the association of partial T-cell immunodeficiency and immune dysregulation by Liston, Adrian, Enders, Anselm, Siggs, Owen M

“…Key Points Clinical severe T-cell immunodeficiencies (in many cases accompanied by deficiencies of other lymphocyte populations) are known to be caused by…”
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Corneal Stiffness Parameters Are Predictive of Structural and Functional Progression in Glaucoma Suspect Eyes by Qassim, Ayub, Mullany, Sean, Abedi, Farshad, Marshall, Henry, Hassall, Mark M., Kolovos, Antonia, Knight, Lachlan S.W., Nguyen, Thi, Awadalla, Mona S., Chappell, Angela, Schulz, Angela M., Galanopoulos, Anna, Agar, Ashish, Healey, Paul R., Hewitt, Alex W., Graham, Stuart L., Landers, John, Casson, Robert J., Siggs, Owen M., Craig, Jamie E.

“…To investigate corneal stiffness parameters (SPs) as predictors of future progression risk in glaucoma suspect eyes. Prospective, longitudinal study. Three…”
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Polygenic Risk Scores Driving Clinical Change in Glaucoma by Kolovos, Antonia, Hassall, Mark M, Siggs, Owen M, Souzeau, Emmanuelle, Craig, Jamie E

“…Glaucoma is a clinically heterogeneous disease and the world's leading cause of irreversible blindness. Therapeutic intervention can prevent blindness but…”
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Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA by Han, Xikun, Steven, Kaiah, Qassim, Ayub, Marshall, Henry N., Bean, Cameron, Tremeer, Michael, An, Jiyuan, Siggs, Owen M., Gharahkhani, Puya, Craig, Jamie E., Hewitt, Alex W., Trzaskowski, Maciej, MacGregor, Stuart

“…Cupping of the optic nerve head, a highly heritable trait, is a hallmark of glaucomatous optic neuropathy. Two key parameters are vertical cup-to-disc ratio…”
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An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity by Qassim, Ayub, Souzeau, Emmanuelle, Siggs, Owen M., Hassall, Mark M., Han, Xikun, Griffiths, Helen L., Frost, N. Andrew, Vallabh, Neeru A., Kirwan, James F., Menon, Geeta, Cree, Angela J., Galanopoulos, Anna, Agar, Ashish, Healey, Paul R., Graham, Stuart L., Landers, John, Casson, Robert J., Gharahkhani, Puya, Willoughby, Colin E., Hewitt, Alex W., Lotery, Andrew J., MacGregor, Stuart, Craig, Jamie E.

“…To examine the combined effects of common genetic variants associated with intraocular pressure (IOP) on primary open-angle glaucoma (POAG) phenotype using a…”
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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma by Fu, Haojie, Siggs, Owen M, Knight, Lachlan Sw, Staffieri, Sandra E, Ruddle, Jonathan B, Birsner, Amy E, Collantes, Edward Ryan, Craig, Jamie E, Wiggs, Janey L, D'Amato, Robert J

“…Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense…”
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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma by Siggs, Owen M., Souzeau, Emmanuelle, Taranath, Deepa A., Dubowsky, Andrew, Chappell, Angela, Zhou, Tiger, Javadiyan, Shari, Nicholl, Jillian, Kearns, Lisa S., Staffieri, Sandra E., Narita, Andrew, Smith, James E.H., Pater, John, Hewitt, Alex W., Ruddle, Jonathan B., Elder, James E., Mackey, David A., Burdon, Kathryn P., Craig, Jamie E.

“…Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function…”
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Dissecting mammalian immunity through mutation by Siggs, Owen M

“…Although mutation and natural selection have given rise to our immune system, a well‐placed mutation can also cripple it, and within an expanding population we…”
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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity by Souma, Tomokazu, Tompson, Stuart W, Thomson, Benjamin R, Siggs, Owen M, Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N, Maurer-Stroh, Sebastian, Yanovitch, Tammy L, Kalaydjieva, Luba, Azmanov, Dimitar N, Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W, Kloss, Bethany, Burdon, Kathryn P, Mackey, David A, Allen, Keri F, Ruddle, Jonathan B, Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L, Pasutto, Francesca, Craig, Jamie E, Jin, Jing, Quaggin, Susan E, Young, Terri L

“…Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber…”
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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry by Knight, Lachlan S.W., Ruddle, Jonathan B., Taranath, Deepa A., Goldberg, Ivan, Smith, James E.H., Gole, Glen, Chiang, Mark Y., Willett, Faren, D’Mellow, Guy, Breen, James, Qassim, Ayub, Mullany, Sean, Elder, James E., Vincent, Andrea L., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Luu, Susie, Siggs, Owen M., Souzeau, Emmanuelle, Craig, Jamie E.

“…To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort. Retrospective clinical…”
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Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse by Hassall, Mark M., Javadiyan, Shari, Klebe, Sonja, Awadalla, Mona S., Sharma, Shiwani, Qassim, Ayub, White, Melissa, Thomas, Paul Q., Craig, Jamie E., Siggs, Owen M.

“…Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure…”
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Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database by Wang, Tao, Bu, Chun Hui, Hildebrand, Sara, Jia, Gaoxiang, Siggs, Owen M., Lyon, Stephen, Pratt, David, Scott, Lindsay, Russell, Jamie, Ludwig, Sara, Murray, Anne R., Moresco, Eva Marie Y., Beutler, Bruce

“…Computational inference of mutation effects is necessary for genetic studies in which many mutations must be considered as etiologic candidates. Programs such…”
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Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series by White, Samuel, Taranath, Ajay, Hanagandi, Prasad, Taranath, Deepa A, To, Minh-Son, Souzeau, Emmanuelle, Siggs, Owen M, Craig, Jamie E

“…Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of…”
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MyD88 signaling in nonhematopoietic cells protects mice against induced colitis by regulating specific EGF receptor ligands by Brandl, Katharina, Sun, Lei, Neppl, Christina, Siggs, Owen M., Le Gall, Sylvain M., Tomisato, Wataru, Li, Xiaohong, Du, Xin, Maennel, Daniela N., Blobel, Carl P., Beutler, Bruce

“…Toll-like receptors (TLRs) trigger intestinal inflammation when the epithelial barrier is breached by physical trauma or pathogenic microbes. Although it has…”
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Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report by Huynh, Aimee, Siggs, Owen M., Wainstein, Brynn K., Gray, Paul E.

“…Orbital myositis is a rare sporadic eye disease associated with extraocular eye muscle inflammation. To date, there have been two reports of familial orbital…”
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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel by Burdon, Kathryn P., Graham, Patricia, Hadler, Johanna, Hulleman, John D., Pasutto, Francesca, Boese, Erin A., Craig, Jamie E., Fingert, John H., Hewitt, Alex W., Siggs, Owen M., Whisenhunt, Kristina, Young, Terri L., Mackey, David A., Dubowsky, Andrew, Souzeau, Emmanuelle

“…The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant…”
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Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma by Siggs, Owen M, Han, Xikun, Qassim, Ayub, Souzeau, Emmanuelle, Kuruvilla, Shilpa, Marshall, Henry N, Mullany, Sean, Mackey, David A, Hewitt, Alex W, Gharahkhani, Puya, MacGregor, Stuart, Craig, Jamie E

“…Early diagnosis of open-angle glaucoma can lead to vision-saving treatment, and genetic variation is an increasingly powerful indicator in disease risk…”
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High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma by Greatbatch, Connor J, Lu, Qinyi, Hung, Sandy, Barnett, Alexander J, Wing, Kristof, Liang, Helena, Han, Xikun, Zhou, Tiger, Siggs, Owen M, Mackey, David A, Cook, Anthony L, Senabouth, Anne, Liu, Guei-Sheung, Craig, Jamie E, MacGregor, Stuart, Powell, Joseph E, Hewitt, Alex W

“…Primary open angle glaucoma (POAG) is a leading cause of blindness globally. Characterized by progressive retinal ganglion cell degeneration, the precise…”
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The landscape of genomic structural variation in Indigenous Australians by Reis, Andre L. M., Rapadas, Melissa, Hammond, Jillian M., Gamaarachchi, Hasindu, Stevanovski, Igor, Ayuputeri Kumaheri, Meutia, Chintalaphani, Sanjog R., Dissanayake, Duminda S. B., Siggs, Owen M., Hewitt, Alex W., Llamas, Bastien, Brown, Alex, Baynam, Gareth, Mann, Graham J., McMorran, Brendan J., Easteal, Simon, Hermes, Azure, Jenkins, Misty R., Patel, Hardip R., Deveson, Ira W.

“…Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented…”
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