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2014 2
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72 results

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Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB. Gokhman D, et al. Nat Genet. 2021 Apr;53(4):467-476. doi: 10.1038/s41588-021-00804-3. Epub 2021 Mar 17. Nat Genet. 2021. PMID: 33731941 Free PMC article.
We discovered evidence of lineage-specific selection on the hedgehog signaling pathway, including a human-specific sixfold down-regulation of EVC2 (LIMBIN), a key hedgehog gene. Inducing a similar down-regulation of EVC2 substantially reduced hedgehog signali …
We discovered evidence of lineage-specific selection on the hedgehog signaling pathway, including a human-specific sixfold down-regulation o …
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V. Aubert-Mucca M, et al. J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4. J Med Genet. 2023. PMID: 35927022
RESULTS: Our detection rate in the cohort of 45 families was of 91.11%, with variants identified in EVC/EVC2 (77.8%), DYNC2H1 (6.7%), DYNC2LI1 (2.2%), SMO (2.2%) or PRKACB (2.2%). ...CONCLUSION: We confirmed that EVC and EVC2 are the major genes involved in the EVC …
RESULTS: Our detection rate in the cohort of 45 families was of 91.11%, with variants identified in EVC/EVC2 (77.8%), DYNC2H1 (6.7%), …
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
Thomas DC, Moorthy JD, Prabhakar V, Ajayakumar A, Pitchumani PK. Thomas DC, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):36-46. doi: 10.1002/ajmg.c.31969. Epub 2022 Apr 8. Am J Med Genet C Semin Med Genet. 2022. PMID: 35393766 Review.
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The syndrome is caused by mutations in the EVC gene on chromosome 4p16, and EVC2 gene, located close to th …
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and c …
The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
Kwon EK, Louie K, Kulkarni A, Yatabe M, Ruellas ACO, Snider TN, Mochida Y, Cevidanes LHS, Mishina Y, Zhang H. Kwon EK, et al. Anat Rec (Hoboken). 2018 Jan;301(1):46-55. doi: 10.1002/ar.23692. Epub 2017 Oct 6. Anat Rec (Hoboken). 2018. PMID: 28950429 Free PMC article.
To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. ...By comparing neural crest-specific Evc2 mutants …
To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, …
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.
Kantaputra P, Dejkhamron P, Sittiwangkul R, Katanyuwong K, Ngamphiw C, Sonsuwan N, Intachai W, Tongsima S, Beales PL, Buranaphatthana W. Kantaputra P, et al. Genes (Basel). 2022 Dec 27;14(1):84. doi: 10.3390/genes14010084. Genes (Basel). 2022. PMID: 36672825 Free PMC article.
Results: Patient 1 had Ellisvan Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified. Pati …
Results: Patient 1 had Ellisvan Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found …
Effects of limited bedding and nesting on postpartum mood state in rats.
Gifford JJ, Pluchino JR, Della Valle R, Van Weele B, Brezoczky E, Caulfield JI, Cavigelli SA, Schwarz JM. Gifford JJ, et al. J Neuroendocrinol. 2023 Jul;35(7):e13275. doi: 10.1111/jne.13275. Epub 2023 Apr 26. J Neuroendocrinol. 2023. PMID: 37186019
Dams underwent sucrose preference tests prior to breeding, during gestation and again postpartum, to examine the potential onset of anhedonia. On embryonic day 19, dams were placed into either a LBN or control housing condition. Contrary to our predictions, LBN stre …
Dams underwent sucrose preference tests prior to breeding, during gestation and again postpartum, to examine the potential onset of anhedoni …
The Role of Nitric Oxide in the Intraocular Pressure Lowering Efficacy of Latanoprostene Bunod: Review of Nonclinical Studies.
Cavet ME, DeCory HH. Cavet ME, et al. J Ocul Pharmacol Ther. 2018 Jan/Feb;34(1-2):52-60. doi: 10.1089/jop.2016.0188. Epub 2017 Aug 7. J Ocul Pharmacol Ther. 2018. PMID: 28783422 Free PMC article. Review.
NO is subsequently released by BDMN as shown by increased cyclic guanosine monophosphate (cGMP) levels in (1) the AqH and iris-ciliary body after administration of LBN in rabbits and in (2) human trabecular meshwork (TM) cells after incubation with LBN. LBN r …
NO is subsequently released by BDMN as shown by increased cyclic guanosine monophosphate (cGMP) levels in (1) the AqH and iris-ciliary body …
Two-Year Experience With Latanoprostene Bunod in Clinical Practice.
Radell JE, Sharma HK, Auyeung KL, Paul ME, Gagliuso DJ, Chadha N, Tsai JC, Serle JB. Radell JE, et al. J Glaucoma. 2021 Sep 1;30(9):776-780. doi: 10.1097/IJG.0000000000001904. J Glaucoma. 2021. PMID: 34172630
LBN was efficacious in lowering intraocular pressure (IOP) and had a favorable safety profile. ...LBN was well-tolerated and may be more efficacious than traditional PGAs....
LBN was efficacious in lowering intraocular pressure (IOP) and had a favorable safety profile. ...LBN was well-tolerated and m …
Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.
Negrete-Torres N, Chima-Galán MDC, Sierra-López EA, Sánchez-Ramos J, Álvarez-González I, Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Amato D, Méndez-Catalá CF, Pozo-Molina G, Méndez-Cruz AR. Negrete-Torres N, et al. Genes (Basel). 2023 Apr 9;14(4):887. doi: 10.3390/genes14040887. Genes (Basel). 2023. PMID: 37107645 Free PMC article.
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystrophic nails, oral defects, and cardiac anomalies. It is caused by pathogenic variants in the EVC or EVC2 genes. To obtain further ins …
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is an autosomal recessive ciliopathy with a disproportionate short stature, polydactyly, dystr …
Regulation of Endothelin-1-Induced Trabecular Meshwork Cell Contractility by Latanoprostene Bunod.
Cavet ME, Vollmer TR, Harrington KL, VanDerMeid K, Richardson ME. Cavet ME, et al. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):4108-16. doi: 10.1167/iovs.14-16015. Invest Ophthalmol Vis Sci. 2015. PMID: 26114488
Endothelin-1 (ET-1) was used to induce HTMC contractility. To determine the effect of LBN on myosin light chain-2 (MLC-2) phosphorylation, HTMCs were pretreated with 10 to 60 muM LBN for 1 hour and then ET-1 for 5 minutes. ...CONCLUSIONS: LBN, SE 175, and lat …
Endothelin-1 (ET-1) was used to induce HTMC contractility. To determine the effect of LBN on myosin light chain-2 (MLC-2) phosphoryla …
72 results