Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
CK Rapp, I Van Dijck, L Laugwitz, M Boon… - Clinical …, 2021 - Wiley Online Library
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM# 618278) is a rare
clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 (NHLRC2 …
clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 (NHLRC2 …
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
M Badura‐Stronka, R Śmigiel… - … Genetics & Genomic …, 2022 - Wiley Online Library
Abstract Background: By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral
angiomatosis (FINCA, MIM# 618278) syndrome have been reported, and five causative …
angiomatosis (FINCA, MIM# 618278) syndrome have been reported, and five causative …
Nhlrc2 is crucial during mouse gastrulation
AE Hiltunen, R Vuolteenaho, VP Ronkainen… - genesis, 2022 - Wiley Online Library
The loss of NHL repeat containing 2 (Nhlrc2) leads to early embryonic lethality in mice, but
the exact timing is currently unknown. In this study, we determined the time of lethality for …
the exact timing is currently unknown. In this study, we determined the time of lethality for …
[HTML][HTML] Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
A Tallgren, L Kager, G O'Grady, H Tuominen… - Frontiers in …, 2023 - frontiersin.org
Purpose FINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM
618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial …
618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial …
[HTML][HTML] Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with …
Y Li, Y Zhang, G Jiang, Y Wang, C He, X Zhao, L Liu… - Medicine, 2022 - journals.lww.com
Case report: novel mutations of NDUFS6 and NHLRC2 genes pote... : Medicine Case report:
novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of …
novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of …
FINCA disease mouse model exhibits altered behaviour and immune response
AE Hiltunen, SM Kangas, A Gondane, H Koivisto… - bioRxiv, 2024 - biorxiv.org
Fibrosis, neurodegeneration and cerebral angiomatosis (FINCA) is a childhood-onset multi-
organ neurodevelopmental disorder associated with multi-organ manifestations and …
organ neurodevelopmental disorder associated with multi-organ manifestations and …
Construction and analysis of a prognostic model for osteosarcoma based on lactate metabolism-related genes
J Yang, K Kang, X Wen, X Li, Z gen Wang - 2024 - researchsquare.com
Background Lactic acid metabolism plays a significant role in tumor development, potentially
resulting in alterations in the immune microenvironment. However, further research is …
resulting in alterations in the immune microenvironment. However, further research is …
Інтерстиціальне захворювання легень та нейродегенеративні розлади при синдромі FINCA: нові знання змінюють старі судження
OR Boyarchuk - Modern Pediatrics. Ukraine, 2022 - mpu.med-expert.com.ua
Abstract FINCA (Fibrosis, Neurodegeneration, Cerebral Angiomatosis) syndrome is a new
genetic multiorgan disease caused by a mutation in NHLRC2 (NHL repeat-containing …
genetic multiorgan disease caused by a mutation in NHLRC2 (NHL repeat-containing …
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S Pediatriya, P i Pediatriya - med-expert.com.ua
Purpose–to describe a clinical case of refractory КD in a three-month-old girl with an
emphasis on the importance of echocardiography and coronary angiography for the final …
emphasis on the importance of echocardiography and coronary angiography for the final …