Results 81 to 90 of about 3,068 (175)

A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature

Journal of Pain Research, 2019
Weiwei Yu, Haiqiang Jin, Qian You, Ding Nan, Yining HuangDepartment of Neurology, Peking University First Hospital, Beijing 100034, People’s Republic of ChinaAbstract: Cerebral cavernous malformations (CCMs) are one of the most common types of ...
Yu W, Jin H, You Q, Nan D, Huang Y
doaj  

Familial Cerebral Cavernous Malformations: A Case Report

Asian Journal of Medicine and Health
Aims: Describe the main imaging findings of familial cerebral cavernous malformations. Presentation of Case: This is the clinical case of a 68-year-old woman with a history of type 2 diabetes mellitus and long-standing systemic arterial hypertension. She presents to the neurology outpatient clinic reporting dizziness, temporal-spatial disorientation ...
Jesús Octavio Tafoya Hernández, Rodolfo Alberto Del Corral Vázquez, Leidi Johana Rodríguez Sotto, Julián Andrés Bucheli Buesaco, Joaquín Núñez Gomez, Agustín Parra Macias   +5 more
openaire   +1 more source

A Japanese pedigree of familial cerebral cavernous malformations--a case report.

Hiroshima journal of medical sciences, 2014
Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported.
Imada, Yasutaka, Yuki, Kiyoshi, Migita, Keisuke, Sadatomo, Takashi, Kuwabara, Masashi, Yamada, Toru, Kurisu, Kaoru   +6 more
openaire   +3 more sources

Programmed Cell Death Protein 10 (PDCD10) Regulates Vesicle Trafficking and Contributes to the Progression of Clear Cell Renal Cell Carcinoma

Journal of Extracellular Vesicles, Volume 14, Issue 6, June 2025.
ABSTRACT Vesicle trafficking is an essential cellular process that plays an important role in tumour progression. Here, we performed a comprehensive transcriptomic and proteomic analysis on 50 clear cell renal cell carcinoma (ccRCC) tumour samples, and the data systematically depicted the alterations in the molecular landscape.
Rui Wang, Tianyu Lin, Yi Liu, Hao Wang, Xinyu Liu, Yihan Dong, Jiaxin Li, Huamao Jiang, Ruibing Chen, Yong Wang, Dan Yue   +10 more
wiley   +1 more source

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Cell Reports
Summary: Cerebral cavernous malformation (CCM) is a neurovascular disease distinguished by clusters of leaky, mulberry-like blood vessels. KRIT1 bi-allelic loss-of-function mutations in endothelial cells are known to trigger brain cavernomas; however ...
Maximiliano Arce, Iza Erzar, Fan Yang, Neeharika Senthilkumar, Favour C. Onyeogaziri, Dario Ronchi, Frida C. Ahlstrand, Nora Noll, Roberta Lugano, Mark Richards, Elisa Scola, Monica Corada, Francesca Lazzaroni, Linda Meggiolaro, Jens Schuster, Niklas Dahl, Mika Niemelä, Behnam Rezai Jahromi, Anna Dimberg, Silvia Lanfraconi, Roberto Latini, Peetra U. Magnusson   +21 more
doaj   +1 more source

Woolly hair nevus: case report and review of literature [PDF]

, 2020
Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings.
Gomes, Tiago Fernandes, Guiote, Victoria, Henrique, Martinha   +2 more
core  

Familial Cerebral Cavernous Malformations [PDF]

Stroke, 2019
Atif, Zafar, Syed A, Quadri, Mudassir, Farooqui, Asad, Ikram, Myranda, Robinson, Blaine L, Hart, Marc C, Mabray, Catherine, Vigil, Alan T, Tang, Mark L, Kahn, Howard, Yonas, Michael T, Lawton, Helen, Kim, Leslie, Morrison   +13 more
openaire   +2 more sources

Familial cerebral cavernous malformation: clinical case [PDF]

Neurologie pro praxi, 2020
Júlia Travkina, Eva Gödöllová, Oto Petrík   +2 more
openaire   +1 more source

Functional outcome of microsurgical clipping compared to endovascular coiling [PDF]

, 2011
Objective: Endovascular coiling has been used increasingly as an alternative to neurosurgical clipping for treating subarachnoid hemorrhage secondary to aneurysm rupture.
Premananda Raja , Murugesu
core  

Cerebral cavernous malformation presenting as seizures [PDF]

, 2020
Cerebral cavernous malformations (CCMs) is one of the rare vascular malformation. It is diagnosed by characteristic lesions on magnetic resonance imaging (MRI).
Brohi, Hazim, Farooq, Ayisha, Mairaj Khan, Muhammad, Rehan, Bushra   +3 more
core   +1 more source