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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
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773 results

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1 article found by citation matching

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Page 1
Hedgehog Signal and Genetic Disorders.
Sasai N, Toriyama M, Kondo T. Sasai N, et al. Front Genet. 2019 Nov 8;10:1103. doi: 10.3389/fgene.2019.01103. eCollection 2019. Front Genet. 2019. PMID: 31781166 Free PMC article. Review.
We first focus on the roles of Hh signaling mediators in signal transduction at the cellular level and the networks formed by these factors. Then, we analyze the spatiotemporal pattern of expression of Hh pathway molecules in tissues and organs, and describe …
We first focus on the roles of Hh signaling mediators in signal transduction at the cellular level and the networks for …
Multiple Endocrine Neoplasia Type 1: Latest Insights.
Brandi ML, Agarwal SK, Perrier ND, Lines KE, Valk GD, Thakker RV. Brandi ML, et al. Endocr Rev. 2021 Mar 15;42(2):133-170. doi: 10.1210/endrev/bnaa031. Endocr Rev. 2021. PMID: 33249439 Free PMC article. Review.
Since then, several new insights on the basic biology and clinical features of MEN1 have appeared in the literature, and those data are discussed in this review. The genetic and molecular interactions of the MEN1-encoded protein menin with transcription factors and chromat …
Since then, several new insights on the basic biology and clinical features of MEN1 have appeared in the literature, and those data are disc …
Ciliopathies.
Hildebrandt F, Benzing T, Katsanis N. Hildebrandt F, et al. N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. N Engl J Med. 2011. PMID: 21506742 Free PMC article. Review.
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet-Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies - a recent concept that descr …
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentos …
Cellular signalling by primary cilia in development, organ function and disease.
Anvarian Z, Mykytyn K, Mukhopadhyay S, Pedersen LB, Christensen ST. Anvarian Z, et al. Nat Rev Nephrol. 2019 Apr;15(4):199-219. doi: 10.1038/s41581-019-0116-9. Nat Rev Nephrol. 2019. PMID: 30733609 Free PMC article. Review.
The sensory capacity of primary cilia relies on the coordinated trafficking and temporal localization of specific receptors and associated signal transduction modules in the cilium. The canonical Hedgehog (HH) pathway, for example, is a bona fide ciliary s …
The sensory capacity of primary cilia relies on the coordinated trafficking and temporal localization of specific receptors and associated …
Nephronophthisis: a pathological and genetic perspective.
Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Wolf MTF, et al. Pediatr Nephrol. 2024 Jul;39(7):1977-2000. doi: 10.1007/s00467-023-06174-8. Epub 2023 Nov 6. Pediatr Nephrol. 2024. PMID: 37930417 Review.
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most frequent genetic causes for kidney failure (KF) in children and adolescents. Over 20 genes cause NPHP and over 90 genes contribute to renal ciliopathies often involving multiple …
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most frequent genetic causes for kidney fai …
Emerging mechanistic understanding of cilia function in cellular signalling.
Hilgendorf KI, Myers BR, Reiter JF. Hilgendorf KI, et al. Nat Rev Mol Cell Biol. 2024 Jul;25(7):555-573. doi: 10.1038/s41580-023-00698-5. Epub 2024 Feb 16. Nat Rev Mol Cell Biol. 2024. PMID: 38366037 Free PMC article. Review.
Cilia generate a unique environment for signal transduction with tight control of protein, lipid and second messenger concentrations within a relatively small compartment, enabling reception, transmission and integration of biological information. In this Review, we …
Cilia generate a unique environment for signal transduction with tight control of protein, lipid and second messenger concentr …
Seriously cilia: A tiny organelle illuminates evolution, disease, and intercellular communication.
Derderian C, Canales GI, Reiter JF. Derderian C, et al. Dev Cell. 2023 Aug 7;58(15):1333-1349. doi: 10.1016/j.devcel.2023.06.013. Epub 2023 Jul 24. Dev Cell. 2023. PMID: 37490910 Free PMC article. Review.
Reflecting their diverse motility and signaling functions, compromised cilia cause a diverse range of diseases collectively called "ciliopathies." In this review, we highlight how cilia signal, focusing on how second messengers generated in cilia convey disti …
Reflecting their diverse motility and signaling functions, compromised cilia cause a diverse range of diseases collectively ca …
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S. Andreu-Cervera A, et al. Neurobiol Dis. 2021 Mar;150:105236. doi: 10.1016/j.nbd.2020.105236. Epub 2020 Dec 28. Neurobiol Dis. 2021. PMID: 33383187 Free article. Review.
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline structures of the f …
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the …
Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.
Şahinoğlu Keşkek N, Akkoyun İ, Temiz A, Kütük Ö. Şahinoğlu Keşkek N, et al. Turk J Ophthalmol. 2022 Jun 29;52(3):174-178. doi: 10.4274/tjo.galenos.2021.72929. Turk J Ophthalmol. 2022. PMID: 35770050 Free PMC article.
OBJECTIVES: The aim of the study was to present a new genetic association presenting with gastrointestinal tract malformations (GTMs) and familial exudative vitreoretinopathy (FEVR)-like disease and review the genetics of Hedgehog signaling. ...This study dem …
OBJECTIVES: The aim of the study was to present a new genetic association presenting with gastrointestinal tract malformations (GTMs) …
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, Versacci P, Dallapiccola B, Tartaglia M, Marino B. Digilio MC, et al. Clin Genet. 2019 Feb;95(2):268-276. doi: 10.1111/cge.13375. Epub 2018 May 23. Clin Genet. 2019. PMID: 29722020 Review.
Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previ …
Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combi …
773 results