| Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease. | Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease.
Branciamore S, Gogoshin G, Rodin AS, Myers AJ., Free PMC Article | 07/10/2024 |
| SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics. | SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.
Saadi I, Goering JP, Hufft-Martinez BM, Tran PV., Free PMC Article | 06/29/2023 |
| SPECC1L binds the myosin phosphatase complex MYPT1/PP1beta and can regulate its distribution between microtubules and filamentous actin. | SPECC1L binds the myosin phosphatase complex MYPT1/PP1β and can regulate its distribution between microtubules and filamentous actin.
Mehta V, Decan N, Ooi S, Gaudreau-Lapierre A, Copeland JW, Trinkle-Mulcahy L., Free PMC Article | 02/27/2023 |
| BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma. | BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma.
Fang SG, Xia TL, Fu JC, Li T, Zhong Q, Han F., Free PMC Article | 12/3/2022 |
| SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome. | SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, Dias P, Mascaro M, Licastro D, Meroni G., Free PMC Article | 04/30/2022 |
| Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors. | Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.
Khuong-Quang DA, Brown LM, Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow LE, Gifford AJ, Rodriguez M, Desai J, Fox SB, Haber M, Ziegler DS, Hansford JR, Marshall GM, Cowley MJ, Ekert PG., Free PMC Article | 09/18/2021 |
| SPECC1L regulates palate development downstream of IRF6. | SPECC1L regulates palate development downstream of IRF6.
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, Imura H, Schultz-Rogers LE, Klee EW, Babovic-Vuksanovic D, Kroc SA, Adeyemo WL, Eshete MA, Bjork BC, Suzuki S, Murray JC, Schutte BC, Butali A, Saadi I., Free PMC Article | 07/10/2021 |
| Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. | Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE, Lupski JR, Scott DA, Zackai EH., Free PMC Article | 06/26/2021 |
| SPECC1L as a novel modulator of PI3K-AKT signaling and AJ biology, required for neural tube closure and CNCC delamination. | SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination.
Wilson NR, Olm-Shipman AJ, Acevedo DS, Palaniyandi K, Hall EG, Kosa E, Stumpff KM, Smith GJ, Pitstick L, Liao EC, Bjork BC, Czirok A, Saadi I., Free PMC Article | 12/31/2016 |
| two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), are reported. | Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. | 09/3/2016 |
| SPECC1L mutations can cause syndromic forms of facial clefting including some cases of autosomal dominant Opitz G/BBB syndrome. | Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH., Free PMC Article | 02/27/2016 |
| The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis | Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.
Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC., Free PMC Article | 01/3/2015 |
| The authors use rapid amplification of cDNA ends, tiling arrays, and deep RNA sequencing to identify chimeric transcripts on human chromosomes 21 and 22. They found that for 492 protein coding genes studied, 85% of these genes had boundaries that extended beyond the current annotated termini. | Evidence for transcript networks composed of chimeric RNAs in human cells.
Djebali S, Lagarde J, Kapranov P, Lacroix V, Borel C, Mudge JM, Howald C, Foissac S, Ucla C, Chrast J, Ribeca P, Martin D, Murray RR, Yang X, Ghamsari L, Lin C, Bell I, Dumais E, Drenkow J, Tress ML, Gelpí JL, Orozco M, Valencia A, van Berkum NL, Lajoie BR, Vidal M, Stamatoyannopoulos J, Batut P, Dobin A, Harrow J, Hubbard T, Dekker J, Frankish A, Salehi-Ashtiani K, Reymond A, Antonarakis SE, Guigó R, Gingeras TR., Free PMC Article | 06/12/2013 |
| SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis. | Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL., Free PMC Article | 09/24/2011 |