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ProteomicsBi-allelic variants of FILIP1 cause a congenital syndrome defined by facial dysmorphisms and a broad range of neurological manifestations
Filamin-A-interacting protein 1 (FILIP1) is a structural protein known to take on roles in neuronal and muscle function and integrity and to interact in addition to filamin-A with filamin-C. For both proteins pathogenic variants in the corresponding genes were linked to neurological symptoms and dys...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD036407 | Pride
Vacuolar myopathy Protein aggregate myopathy Flnc Flna Mfm/ myofibrillar myopathy 
TranscriptomicsA non-coding mutation implicates HCFC1 in non-syndromic intellectual disability
Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation ...
ORGANISM(S): Homo sapiens 
2012-09-01 | E-GEOD-39326 | biostudies-arrayexpress
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