Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature

Autor: Joy Yaplito‐Lee, Gautham Pai, Winita Hardikar, Kai M. Hong, James Pitt, Justine Marum, David J. Amor

Publikováno v: JIMD Reports, Vol 56, Iss 1, Pp 14-19 (2020)

Abstract Lathosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by defects in the SC5D (sterol C5‐desaturase) gene which encodes for the 3‐beta‐hydroxysteroid‐delta‐5‐desaturase (also called stero

Externí odkaz: https://doaj.org/article/042167ad149b4599b87c404710d117ac

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency

Autor: Leisa Rebecca Watson, Charlotte A. Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F. Hunter, Vanessa L. Bryant, Michael Sze Yuan Low

Publikováno v: Allergy, Asthma & Clinical Immunology, Vol 14, Iss 1, Pp 1-5 (2018)

Abstract Background Daclizumab is a humanized monoclonal antibody that blocks CD25, the high affinity alpha subunit of the interleukin-2 receptor. Daclizumab therapy targets T regulatory cell and activated effector T cell proliferation to suppress au

Externí odkaz: https://doaj.org/article/a9a5213b08cb415fa5b05e82cef8b2f1

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies

Autor: Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

Publikováno v: JIMD reports. 63(3)

Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist in variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed72a773fdac3b915276550bda31194b
https://pubmed.ncbi.nlm.nih.gov/35433172

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

Autor: Tan, Natalie B.^1,2,3 (AUTHOR) natalie.tan@vcgs.org.au, Stapleton, Rachel¹ (AUTHOR), Stark, Zornitza^1,2 (AUTHOR), Delatycki, Martin B.^1,2 (AUTHOR), Yeung, Alison^1,4,5 (AUTHOR), Hunter, Matthew F.^4,5 (AUTHOR), Amor, David J.^2,3,6 (AUTHOR), Brown, Natasha J.^1,2,6,7 (AUTHOR), Stutterd, Chloe A.^1,7 (AUTHOR), McGillivray, George¹ (AUTHOR), Yap, Patrick^8,9 (AUTHOR), Regan, Matthew^4,5 (AUTHOR), Chong, Belinda¹ (AUTHOR), Fanjul Fernandez, Miriam^1,2 (AUTHOR), Marum, Justine¹ (AUTHOR), Phelan, Dean¹ (AUTHOR), Pais, Lynn S.¹⁰ (AUTHOR), White, Susan M.^1,2 (AUTHOR), Lunke, Sebastian^1,11 (AUTHOR), Tan, Tiong Y.^1,2 (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Nov2020, Vol. 8 Issue 11, p1-19. 19p.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Autor: Scheffer, Ingrid E., Bennett, Caitlin A., Gill, Deepak, de Silva, Michelle G., Boggs, Kirsten, Marum, Justine, Baker, Naomi, Palmer, Elizabeth E., Howell, Katherine B., Andrews, Ian, Antony, Jayne, Ardern‐Holmes, Simone, Bye, Ann M, Cardamone, Michael, Chelakkadan, Shabeed, Clark, Damian, Curnow, Sarah R, Dabscheck, Gabriel, Fahey, Michael C, Freeman, Jeremy L

Publikováno v: Developmental Medicine & Child Neurology; Jan2023, Vol. 65 Issue 1, p50-57, 8p