{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GARIN3 (also known as FAM71B) appears to function as a novel nuclear protein that plays dual roles in RNA biogenesis and in male germ cell development. On the one hand, studies in muscle cells revealed that GARIN3 localizes to nuclear speckles and Cajal bodies and interacts with key components of pre‐mRNA processing (including FRG1, SMN, and PABPN1), suggesting that it may participate in spliceosome assembly or related steps of RNA maturation and thereby contribute to the pathogenesis of neuromuscular disorders such as facioscapulohumeral muscular dystrophy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " On the other hand, GARIN3 is also detected in the male germline where its expression is restricted to germ cells and is associated with structures essential for spermiogenesis. Its stage-specific expression pattern and association with cytoskeletal components in sperm flagella point to a potential role in sperm differentiation and fertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Silvana van Koningsbruggen, Kirsten R Straasheijm, Ellen Sterrenburg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FRG1P-mediated aggregation of proteins involved in pre-mRNA processing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Chromosoma (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00412-006-0083-3"}], "href": "https://doi.org/10.1007/s00412-006-0083-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17103222"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17103222"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hannah-Ruth Engelbrecht, Shareefa Dalvie, Gloudi Agenbag, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole-exome sequencing in an Afrikaner family with bipolar disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Affect Disord (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jad.2020.06.045"}], "href": "https://doi.org/10.1016/j.jad.2020.06.045"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32697718"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32697718"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fabrice G Petit, Christine Kervarrec, Soazik P Jamin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Combining RNA and protein profiling data with network interactions identifies genes associated with spermatogenesis in mouse and human."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Reprod (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1095/biolreprod.114.126250"}], "href": "https://doi.org/10.1095/biolreprod.114.126250"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25609838"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25609838"}]}]}]}