| DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations. | DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. | 07/13/2024 |
| Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane. | Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane.
Ehring K, Manikowski D, Goretzko J, Froese J, Gude F, Jakobs P, Rescher U, Kirchhefer U, Grobe K., Free PMC Article | 02/5/2022 |
| Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release. | Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release.
Li W, Wang L, Wierbowski BM, Lu M, Dong F, Liu W, Li S, Wang P, Salic A, Gong X., Free PMC Article | 01/8/2022 |
| Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis. | Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis.
Chen H, Liu Y, Li X., Free PMC Article | 07/17/2021 |
| Genome-wide association study does not support the role of DISP1 in predicting serotonin reuptake inhibitor response in obsessive-compulsive disorder. | Pharmacogenetic evaluation of a DISP1 gene variant in antidepressant treatment of obsessive-compulsive disorder.
Lisoway AJ, Zai G, Tiwari AK, Zai CC, Wigg K, Goncalves V, Zhang D, Freeman N, Müller DJ, Kennedy JL, Richter MA. | 04/20/2019 |
| The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 x 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development. | Whole-genome association analysis of treatment response in obsessive-compulsive disorder.
Qin H, Samuels JF, Wang Y, Zhu Y, Grados MA, Riddle MA, Greenberg BD, Knowles JA, Fyer AJ, McCracken JT, Murphy DL, Rasmussen SA, Cullen BA, Piacentini J, Geller D, Stewart SE, Pauls D, Bienvenu OJ, Goes FS, Maher B, Pulver AE, Valle D, Lange C, Mattheisen M, McLaughlin NC, Liang KY, Nurmi EL, Askland KD, Nestadt G, Shugart YY., Free PMC Article | 10/22/2016 |
| DISP-1 is required for non-small cell lung carcinoma cells proliferation | The hedgehog processing pathway is required for NSCLC growth and survival.
Rodriguez-Blanco J, Schilling NS, Tokhunts R, Giambelli C, Long J, Liang Fei D, Singh S, Black KE, Wang Z, Galimberti F, Bejarano PA, Elliot S, Glassberg MK, Nguyen DM, Lockwood WW, Lam WL, Dmitrovsky E, Capobianco AJ, Robbins DJ., Free PMC Article | 07/13/2013 |
| Studies indicate that DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype. | New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG. | 06/18/2011 |
| report of 1st de novo DISP1 point mutation in patient with congenital diaphragmatic hernia (CDH); finding with Disp1 embryonic mouse diaphragm and lung expression and previously reported 1q41q42 aberrations in CDH suggests DISP1 may be CDH candidate gene | Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR., Free PMC Article | 01/15/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| describe two independent families with truncating mutations in DISP1 that resemble the cardinal craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene | Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M., Free PMC Article | 01/21/2010 |