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KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

Claudia Ricci, Alfonso Cerase, Giulia Riolo, Giuditta Manasse, Stefania Battistini

J Mol Neurosci. 2021; 71(9): 1876–1883. Published online 2021 Mar 2. doi: 10.1007/s12031-021-01814-w

PMCID:: PMC8421287

Abstract Article PDF–1.0M

Select item 82084662.

Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation

Athanasios K. Manole, Vernon J. Forrester, Barrett J. Zlotoff, Blaine L. Hart, Leslie A. Morrison

Am J Med Genet A. Author manuscript; available in PMC 2021 Jun 16.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1066–1072. Published online 2020 Feb 26. doi: 10.1002/ajmg.a.61519

PMCID:: PMC8208466

Abstract Article PDF–899K

Select item 70429653.

Postzygotic mosaicism in cerebral cavernous malformation

Matthias Rath, Axel Pagenstecher, Alexander Hoischen, Ute Felbor

J Med Genet. 2020 Mar; 57(3): 212–216. Published online 2019 Aug 24. doi: 10.1136/jmedgenet-2019-106182

PMCID:: PMC7042965

Abstract Article PDF–677K

Select item 55194144.

Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition

Corinne D. Strickland, Steven C. Eberhardt, Mary R. Bartlett, Jeffrey Nelson, Helen Kim, Leslie A. Morrison, Blaine L. Hart

Radiology. August 2017; 284(2): 443–450. Published online 2017 Mar 20. doi: 10.1148/radiol.2017161127

PMCID:: PMC5519414

Abstract Article PDF–615K

Select item 47429345.

Role of Krev Interaction Trapped-1 in Prostacyclin-Induced Protection against Lung Vascular Permeability Induced by Excessive Mechanical Forces and Thrombin Receptor Activating Peptide 6

Angelo Meliton, Fanyong Meng, Yufeng Tian, Alok A. Shah, Anna A. Birukova, Konstantin G. Birukov

Am J Respir Cell Mol Biol. 2015 Dec; 53(6): 834–843. doi: 10.1165/rcmb.2014-0376OC

PMCID:: PMC4742934

Abstract Article PDF–1.7M

Select item 44559496.

Familial versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype

T.A. Petersen, L.A. Morrison, R.M. Schrader, B.L. Hart

AJNR Am J Neuroradiol. 2010 Feb; 31(2): 377–382. doi: 10.3174/ajnr.A1822

PMCID:: PMC4455949

Abstract Article PDF–690K

Select item 42366437.

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations

Silvia Lanfranconi, Dario Ronchi, Naghia Ahmed, Vittorio Civelli, Paola Basilico, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti

BMC Neurol. 2014; 14: 158. Published online 2014 Aug 3. doi: 10.1186/s12883-014-0158-3

PMCID:: PMC4236643

Abstract Article PDF–1.1M

Select item 40498608.

CCM1 and the second life of proteins in adhesion complexes

Maaike CW van den Berg, Boudewijn MT Burgering

Cell Adh Migr. 2014 Mar 1; 8(2): 146–157. Published online 2014 Mar 31. doi: 10.4161/cam.28437

PMCID:: PMC4049860

Abstract Article PDF–1.3M

Select item 39802159.

Unexpected Distribution of KRIT1 Inside the Nucleus: New Insight in a Complex Molecular Pathway

S. Marzo, V. Galimberti, M. Biggiogera

Eur J Histochem. 2014 Jan 27; 58(1): 2358. Published online 2014 Mar 11. doi: 10.4081/ejh.2014.2358

PMCID:: PMC3980215

Abstract Article PDF–200K

Select item 307034510.

Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy

Sanjeev Rajakulendran, Sreeman Andole, Angus Kennedy

BMJ Case Rep. 2011; 2011: bcr0120113784. Published online 2011 Mar 24. doi: 10.1136/bcr.01.2011.3784

PMCID:: PMC3070345

Abstract Article PDF–315K

Select item 292673311.

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

Lucia Anna Muscarella, Vito Guarnieri, Michelina Coco, Serena Belli, Paola Parrella, Giuseppe Pulcrano, Domenico Catapano, Vincenzo A. D'Angelo, Leopoldo Zelante, Leonardo D'Agruma

J Biomed Biotechnol. 2010; 2010: 854737. Published online 2010 Jul 27. doi: 10.1155/2010/854737

PMCID:: PMC2926733

Abstract Article PDF–853K

Select item 291030112.

Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation

Shantan Reddy, Michael B. Gorin, Tara A. McCannel, Irena Tsui, Bradley R. Straatsma

Graefes Arch Clin Exp Ophthalmol. 2010; 248(9): 1359–1361. Published online 2010 Mar 20. doi: 10.1007/s00417-010-1329-6

PMCID:: PMC2910301

Abstract Article PDF–149K

Select item 288968313.

Cutaneous Venous Malformations in Familial Cerebral Cavernomatosis Caused by KRIT1 Gene Mutations

Agustí Toll, Elisabet Parera, Ana M. Giménez-Arnau, Alejandro Pou, Josep Lloreta, Nisha Limaye, Miikka Vikkula, Ramon M. Pujol

Dermatology. 2009 Apr; 218(4): 307–313. Published online 2009 Jan 31. doi: 10.1159/000199461

PMCID:: PMC2889683

Abstract Article PDF–491K

Select item 37914314.

Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Am J Hum Genet. 2002 Jun; 70(6): 1564–1567. Published online 2002 Apr 8. doi: 10.1086/340604

PMCID:: PMC379143

Abstract Article PDF–234K

Select item 12501115.

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

Murat Gunel, Maxwell S. H. Laurans, Dana Shin, Michael L. DiLuna, Jennifer Voorhees, Keith Choate, Carol Nelson-Williams, Richard P. Lifton

Proc Natl Acad Sci U S A. 2002 Aug 6; 99(16): 10677–10682. Published online 2002 Jul 24. doi: 10.1073/pnas.122354499

PMCID:: PMC125011

Abstract Article PDF–881K

Select item 4157016.

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.

M Günel, I A Awad, J Anson, R P Lifton

Proc Natl Acad Sci U S A. 1995 Jul 3; 92(14): 6620–6624. doi: 10.1073/pnas.92.14.6620

PMCID:: PMC41570

Summary Page Browse PDF–1.5M

Select item 817832117.

Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1

Qinglian He, Aihua Ye, Weibiao Ye, Xiaomin Liao, Guoqiang Qin, Yongqiang Xu, Yuting Yin, Huanqian Luo, Muhua Yi, Liying Xian, Shihao Zhang, Xiyuan Qin, Wei Zhu, Yuling Li

Cell Death Dis. 2021 Jun; 12(6): 576. Published online 2021 Jun 4. doi: 10.1038/s41419-021-03803-8

PMCID:: PMC8178321

Abstract Article PDF–8.3M

Select item 787549618.

Protein kinase Cα regulates the nucleocytoplasmic shuttling of KRIT1

Elisa De Luca, Andrea Perrelli, Harsha Swamy, Mariapaola Nitti, Mario Passalacqua, Anna Lisa Furfaro, Anna Maria Salzano, Andrea Scaloni, Angela J. Glading, Saverio Francesco Retta

J Cell Sci. 2021 Feb 1; 134(3): jcs250217. Published online 2021 Feb 4. doi: 10.1242/jcs.250217

PMCID:: PMC7875496

Abstract Article

Select item 671201819.

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

Chun-Wei Chang, Peng-Wei Hsu, Kuo-Chen Wei, Chia-Wen Chang, Hon-Chung Fung, Mo-Song Hsih, Wen-Chuin Hsu, Long-Sun Ro, Chen-Nen Chang, Jiun-Jie Wang, Yih-Ru Wu, Sien-Tsong Chen

Sci Rep. 2019; 9: 12387. Published online 2019 Aug 27. doi: 10.1038/s41598-019-48448-y

PMCID:: PMC6712018

Abstract Article PDF–2.0M

Select item 580663120.

KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease

Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Andrea Perrelli, Martina Daga, Stefania Pizzimenti, Giuseppina Barrera, Paola Cassoni, Adriano Angelucci, Lorenza Trabalzini, Vincenzo Nicola Talesa, Luca Goitre, Saverio Francesco Retta

Free Radic Biol Med. 2018 Feb 1; 115: 202–218. doi: 10.1016/j.freeradbiomed.2017.11.014

PMCID:: PMC5806631

Abstract Article

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PMC Links for Gene (Select 889) (66)
PMC
Homo sapiens KRIT1 ankyrin repeat containing (KRIT1), transcript variant 34, mRN...
Homo sapiens KRIT1 ankyrin repeat containing (KRIT1), transcript variant 34, mRNA
gi|1183596693|ref|NM_001350680.1|

Nucleotide
krev interaction trapped protein 1 isoform 2 [Homo sapiens]
krev interaction trapped protein 1 isoform 2 [Homo sapiens]
gi|1183596639|ref|NP_001337598.1|

Protein
Cbl [Diabrotica virgifera virgifera]
Cbl [Diabrotica virgifera virgifera]
Gene ID:114327939

Gene

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