PMC Articles for MedGen (Select 886377) - PMC

Select item 99404411.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Mélanie Parisot, Meriem Garfa-Traoré, Amale Ichkou, Nadia Elkhartoufi, Christine Bole, Patrick Nitschke, Jeanne Amiel, Jelena Martinovic, Férechté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas

Acta Neuropathol Commun. 2023; 11: 29. Published online 2023 Feb 20. doi: 10.1186/s40478-023-01519-8

PMCID:: PMC9940441

Article PDF–2.3M

Select item 97807582.

Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies

Annika Möller-Kerutt, Birgit Schönhoff, Yvonne Rellmann, Britta George, Daniela Anne Braun, Hermann Pavenstädt, Thomas Weide

Life Sci Alliance. 2023 Mar; 6(3): e202201649. Published online 2022 Dec 22. doi: 10.26508/lsa.202201649

PMCID:: PMC9780758

Article PDF–1.8M

Select item 88110923.

A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis

Midori Awazu, Mamiko Yamada, Nariaki Asada, Akinori Hashiguchi, Kenjiro Kosaki, Kazuya Matsumura

CEN Case Rep. 2022 Feb; 11(1): 116–119. Published online 2021 Aug 25. doi: 10.1007/s13730-021-00640-8

PMCID:: PMC8811092

Article PDF–1.0M

Select item 85199564.

Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis

Akiko Tanoue, Kan Katayama, Yugo Ito, Kensuke Joh, Masaaki Toda, Taro Yasuma, Corina N. D’Alessandro-Gabazza, Hiroshi Kawachi, Kunimasa Yan, Masaaki Ito, Esteban C. Gabazza, Karl Tryggvason, Kaoru Dohi

Sci Rep. 2021; 11: 20556. Published online 2021 Oct 15. doi: 10.1038/s41598-021-00159-z

PMCID:: PMC8519956

Article PDF–12M

Select item 61013915.

Association of crumbs homolog-2 with mTORC1 in developing podocyte

Sho Hamano, Yukino Nishibori, Ichiro Hada, Naoaki Mikami, Noriko Ito-Nitta, Daisuke Fukuhara, Akihiko Kudo, Zhijie Xiao, Masatoshi Nukui, Jaakko Patrakka, Karl Tryggvason, Kunimasa Yan

PLoS One. 2018; 13(8): e0202400. Published online 2018 Aug 20. doi: 10.1371/journal.pone.0202400

PMCID:: PMC6101391

Article PDF–4.1M

Select item 42896896.

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, Heon Yung Gee, Hugh J. McCarthy, Svjetlana Lovric, Carolin E. Sadowski, Werner Pabst, Virginia Vega-Warner, Humphrey Fang, Ania Koziell, Michael A. Simpson, Ismail Dursun, Erkin Serdaroglu, Shawn Levy, Moin A. Saleem, Friedhelm Hildebrandt, Arindam Majumdar

Am J Hum Genet. 2015 Jan 8; 96(1): 153–161. doi: 10.1016/j.ajhg.2014.11.014

PMCID:: PMC4289689

Article PDF–3.3M

Select item 42896877.

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman-Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta

Am J Hum Genet. 2015 Jan 8; 96(1): 162–169. doi: 10.1016/j.ajhg.2014.11.013

PMCID:: PMC4289687

Article PDF–960K

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