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About 130 results

ALLMedicine™ Primary Familial Brain Calcification Center

Research & Reviews  52 results

Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
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Neuroscience Bulletin; Sun H, Xu X et. al.

Jun 18th, 2022 - PiT2 is an inorganic phosphate (Pi) transporter whose mutations are linked to primary familial brain calcification (PFBC). PiT2 mainly consists of two ProDom (PD) domains and a large intracellular loop region (loop7). The PD domains are crucial fo...

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkin...
https://doi.org/10.1002/mds.28982
Movement Disorders : Official Journal of the Movement Dis... Lange LM, Gonzalez-Latapi P et. al.

Apr 29th, 2022 - In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement di...

Novel likely pathogenic SLC20A variant in primary familial brain calcification.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895889
BMJ Case Reports; Sharma R, Stitt D

Mar 4th, 2022 - A woman in her 30s was referred to our neurology outpatient clinic following an incidental finding of significant bilateral and symmetric basal ganglia, thalamic, cerebellar and subcortical white matter calcification on brain CT and MRI. A diagnos...

Characteristics and therapeutic potential of sodium-dependent phosphate cotransporters ...
https://doi.org/10.1016/j.jphs.2021.11.004
Journal of Pharmacological Sciences; Inden M, Kurita H et. al.

Dec 21st, 2021 - Type-III sodium-dependent phosphate transporters 1 and 2 (PiT 1 and PiT 2, respectively) are proteins encoded by SLC20A1 and SLC20A2, respectively. The ubiquitous distribution of SLC20A1 and SLC20A2 mRNAs in mammalian tissues supports the housekee...

Distinct functional classes of PDGFRB pathogenic variants in primary familial brain cal...
https://doi.org/10.1093/hmg/ddab258
Human Molecular Genetics; Lenglez S, Sablon A et. al.

Sep 9th, 2021 - Platelet-derived growth factor receptor beta (PDGFRB) is one of the genes associated with primary familial brain calcification (PFBC), an inherited neurological disease (OMIM:173410). Genetic analysis of patients and families revealed at least 13 ...

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