{"entity": "journal", "iuid": "81cec396ccf54e84a02dc3bf5d986bb3", "timestamp": "2026-08-26T22:46:26.208Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/J%20Clin%20Neurosci.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/J%20Clin%20Neurosci"}}, "title": "J Clin Neurosci", "issn": "1532-2653", "issn-l": null, "publications_count": 2, "publications": [{"entity": "publication", "iuid": "60a685a34c904516888372900047ceef", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/60a685a34c904516888372900047ceef.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/60a685a34c904516888372900047ceef"}}, "title": "Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.", "authors": [{"family": "Zulfiqar", "given": "Shumaila", "initials": "S"}, {"family": "Tariq", "given": "Muhammad", "initials": "M"}, {"family": "Ramzan", "given": "Shafaq", "initials": "S"}, {"family": "Khan", "given": "Ayaz", "initials": "A"}, {"family": "Sher", "given": "Muhammad", "initials": "M"}, {"family": "Ali", "given": "Zafar", "initials": "Z"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}, {"family": "Abdullah", "given": "Uzma", "initials": "U"}, {"family": "Mahmood Baig", "given": "Shahid", "initials": "S"}], "type": "journal article", "published": "2021-12-00", "journal": {"title": "J Clin Neurosci", "issn": "1532-2653", "volume": "94", "pages": "8-12", "issn-l": null}, "abstract": "GPR56 gene is best known for its pivotal role in cerebral cortical development. Mutations inGPR56give rise to cobblestone-like brain malformation, white matter changes and cerebellar dysplasia. This study aimed to identify causative variant in a consanguineous family having five individuals affected with developmental delay, mild to severe intellectual disability, speech impairment, strabismus and seizures. Whole exome sequencing was performed to identify mutation in affected individuals. Variants were filtered and further validated by Sanger sequencing and segregation analysis. A novel frameshift variant c.1601dupT leading to p.Ala535GlyfsTer17) was identified in GPR56 gene by whole exome sequencing and subsequent filtering. All five affected individuals were homozygous for the mutant allele while four asymptomatic individuals carried the variant in heterozygous state. Radiological findings of a representative patient presented features of GPR56-associated cobblestone like brain malformation. MRI findings suggested paucity of sulci, dilated ventricular system and brainstem atrophy. The microgyria were observed in a simplified gyral pattern (cobblestone). This single bp insertion, and the consequent frameshift, results in the truncation of GPR56 protein. This could result in a malformed cortex giving the brain a cobblestone like shape. Our study identified a 7th novel frameshift variant from Pakistani population in GPR56 gene, thus broadening mutation spectrum.", "doi": "10.1016/j.jocn.2021.09.027", "pmid": "34863467", "labels": [], "xrefs": [{"db": "pii", "key": "S0967-5868(21)00483-5"}], "notes": [], "created": "2026-08-21T11:23:36.430Z", "modified": "2026-08-21T11:23:36.454Z"}, {"entity": "publication", "iuid": "8e7e8105ce8f4c538d586a79c705472d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8e7e8105ce8f4c538d586a79c705472d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8e7e8105ce8f4c538d586a79c705472d"}}, "title": "Early increment of soluble triggering receptor expressed on myeloid cells 2 in plasma might be a predictor of poor outcome after ischemic stroke.", "authors": [{"family": "Kwon", "given": "Hyuk Sung", "initials": "HS"}, {"family": "Lee", "given": "Eun-Hye", "initials": "EH"}, {"family": "Park", "given": "Hyun-Hee", "initials": "HH"}, {"family": "Jin", "given": "Jeong-Hwa", "initials": "JH"}, {"family": "Choi", "given": "Hojin", "initials": "H"}, {"family": "Lee", "given": "Kyu-Yong", "initials": "KY"}, {"family": "Lee", "given": "Young Joo", "initials": "YJ"}, {"family": "Lee", "given": "Jae-Hong", "initials": "JH"}, {"family": "de Oliveira", "given": "Felipe Marques Souza", "initials": "FMS"}, {"family": "Kim", "given": "Hyun Young", "initials": "HY"}, {"family": "Seo Kim", "given": "Young", "initials": "Y"}, {"family": "Kim", "given": "Bum Joon", "initials": "BJ"}, {"family": "Heo", "given": "Sung Hyuk", "initials": "SH"}, {"family": "Chang", "given": "Dae-Il", "initials": "DI"}, {"family": "Kamali-Moghaddam", "given": "Masood", "initials": "M"}, {"family": "Koh", "given": "Seong-Ho", "initials": "SH"}], "type": "journal article", "published": "2020-03-00", "journal": {"title": "J Clin Neurosci", "issn": "1532-2653", "volume": "73", "pages": "215-218", "issn-l": null}, "abstract": "Soluble triggering receptor expressed on myeloid cells 2 (sTREM2) is derived from cleavage of TREM2, which is expressed on the cell surface of microlgia and other tissue-specific macrophages. In the present study, the changes in the sTREM2 levels after ischemic stroke (IS) and their association with clinical outcomes were evaluated. A total of 43 patients diagnosed with non-cardioembolic IS between June 2011 and May 2014 were consecutively included in this study. Patients treated with intravenous thrombolysis or intra-arterial thrombectomy were excluded. Plasma samples were collected three times (days 1, 7, and 90) after ictus. The sTREM2 level was measured in the samples using the highly sensitive solid-phase proximity ligation assay (SP-PLA). Among the 43 subjects, higher initial NIH stroke scale (NIHSS) score (P = 0.005), early increment of sTREM2 (P < 0.001), and late decrement of sTREM2 (P = 0.002), were more common in patients with poor outcome. Based on multivariate analysis, initial NIHSS score (P = 0.015) and early increment of sTREM2 (P = 0.032) were independently associated with poor outcome. The results from the present study indicate that increment of sTREM2 level at the early phase was a predictor of poor outcome. Serial follow-up of sTREM2 may aid prognosis after stroke.", "doi": "10.1016/j.jocn.2020.02.016", "pmid": "32067825", "labels": [], "xrefs": [{"db": "pii", "key": "S0967-5868(19)32350-1"}], "notes": [], "created": "2026-08-20T08:00:02.877Z", "modified": "2026-08-20T08:00:02.947Z"}], "created": "2026-08-20T08:00:02.910Z", "modified": "2026-08-20T08:00:02.910Z"}