Genomes and Genes
proto oncogene proteins c ret
Summary: Receptor protein-tyrosine kinases involved in the signaling of GLIAL CELL-LINE DERIVED NEUROTROPHIC FACTOR ligands. They contain an extracellular cadherin domain and form a receptor complexes with GDNF RECEPTORS. Mutations in ret protein are responsible for HIRSCHSPRUNG DISEASE and MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.
- Garcia Barcelo M, Lui V, So M, Miao X, Leon T, Yuan Z, et al. MNX1 (HLXB9) mutations in Currarino patients. J Pediatr Surg. 2009;44:1892-8 pubmed publisher..The variability of the CS phenotype among related or unrelated patients bearing the same mutation advocates for differences in the genetic background of each individual and invokes the implication of additional CS susceptibility genes. ..
- Moura M, Cavaco B, Pinto A, Domingues R, Santos J, Cid M, et al. Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas. Br J Cancer. 2009;100:1777-83 pubmed publisher..Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. ..
- Castellone M, De Falco V, Rao D, Bellelli R, Muthu M, Basolo F, et al. The beta-catenin axis integrates multiple signals downstream from RET/papillary thyroid carcinoma leading to cell proliferation. Cancer Res. 2009;69:1867-76 pubmed publisher..Thus, multiple signaling events downstream from RET/PTC converge on beta-catenin to stimulate cell proliferation. ..
- Sromek M, Czetwertyńska M, Skasko E, Zielińska J, Czapczak D, Steffen J. The frequency of selected polymorphic variants of the RET gene in patients with medullary thyroid carcinoma and in the general population of central Poland. Endocr Pathol. 2010;21:178-85 pubmed publisher..The presence of this polymorphic change in MTC patients carrying, at the same time, the RET codon 634 mutation lowers the age of onset of MTC in this group. ..
- Kim H, Jung H, Lim S, Sung J, Whang Y, Jo U, et al. A study of RET proto-oncogene polymorphisms in association with lung cancer risk in the Korean population. Anticancer Res. 2010;30:3621-7 pubmed..These results demonstrated that this novel polymorphism of the RET gene is associated with an increased risk of lung cancer in the Korean population. ..
- Wells S, Santoro M. Targeting the RET pathway in thyroid cancer. Clin Cancer Res. 2009;15:7119-23 pubmed publisher..Also, recently developed molecular therapeutics that target the RET pathway have shown activity in clinical trials of patients with advanced MTC, a disease for which there has been no effective therapy. ..
- Lee S, Shin J, Han B, Ko E. Medullary thyroid carcinoma: comparison with papillary thyroid carcinoma and application of current sonographic criteria. AJR Am J Roentgenol. 2010;194:1090-4 pubmed publisher..Currently accepted sonographic criteria can be applied for a diagnosis of MTCs. MTCs differ from PTCs in size, presence of a cystic change, and echotexture. ..
- Sanz C, Vezzosi D, Pigny P, Bennet A, Caron P. Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient. Ann Endocrinol (Paris). 2009;70:141-4 pubmed publisher..The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multiple MTC in a carrier of C634G mutation were unusual and argued for the possible role of genetic modifier(s) in this MEN 2a patient. ..
- Conzo G, Ruggiero R, Palazzo A, Della Pietra C, Stanzione F, Livrea A, et al. [The RET gene and medullary thyroid cancer: from mutations to the planning of therapy]. Chir Ital. 2009;61:531-8 pubmed..A review of the literature shows the excellent results of laboratory, genetic and clinical research that have made it possible to reduce medullary thyroid cancer-related mortality. ..
- Schellhaas E, König C, Frank Raue K, Buhr H, Hotz H. Long-term outcome of "prophylactic therapy" for familial medullary thyroid cancer. Surgery. 2009;146:906-12 pubmed publisher..Cervicolateral lymphadenectomy is indicated if calcitonin remains elevated after primary surgery. Prophylactic thyroidectomy should be performed before the development of lymph node metastases. ..
- Wells S, Gosnell J, Gagel R, Moley J, Pfister D, Sosa J, et al. Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Oncol. 2010;28:767-72 pubmed publisher..These results demonstrate that vandetanib may provide an effective therapeutic option in patients with advanced hereditary MTC, a rare disease for which there has been no effective therapy. ..
- Brandt W, Mologni L, Preu L, Lemcke T, Gambacorti Passerini C, Kunick C. Inhibitors of the RET tyrosine kinase based on a 2-(alkylsulfanyl)-4-(3-thienyl)nicotinonitrile scaffold. Eur J Med Chem. 2010;45:2919-27 pubmed publisher..Docking experiments suggest a binding mode of the new inhibitors in the ATP binding pocket of the target kinase, explaining the observed structure-activity relationships. ..
- Moore S, Zaahl M. Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation. J Pediatr Surg. 2010;45:393-6 pubmed publisher..Specifically, HSCR-MEN2 cosegregation mostly relates to the cysteine-rich area at the RET-620 (the "Janus gene")...
- Pufnock J, Rothstein J. Oncoprotein signaling mediates tumor-specific inflammation and enhances tumor progression. J Immunol. 2009;182:5498-506 pubmed publisher..These experiments support a mechanism whereby oncogenes can directly recruit and activate innate and adaptive immune cells, resulting in enhanced tumor progression. ..
- Song R, Spera M, Garrett C, El Dahr S, Yosypiv I. Angiotensin II AT2 receptor regulates ureteric bud morphogenesis. Am J Physiol Renal Physiol. 2010;298:F807-17 pubmed publisher..We conclude that AT2R performs essential functions during UB branching morphogenesis via control of the GDNF/c-Ret/Wnt11 signaling pathway, UB cell proliferation, and survival. ..
- Hamatani K, Eguchi H, Mukai M, Koyama K, Taga M, Ito R, et al. Improved method for analysis of RNA present in long-term preserved thyroid cancer tissue of atomic bomb survivors. Thyroid. 2010;20:43-9 pubmed publisher..In this study, we established an improved 5' rapid amplification of cDNA ends (RACE) method using a small amount of RNA extracted from archival thyroid cancer tissue specimens...
- Gandhi M, Dillon L, Pramanik S, Nikiforov Y, Wang Y. DNA breaks at fragile sites generate oncogenic RET/PTC rearrangements in human thyroid cells. Oncogene. 2010;29:2272-80 pubmed publisher..These results provide the direct evidence for the involvement of chromosomal fragile sites in the generation of cancer-specific rearrangements in human cells...
- Zhao F, Falk C, Osen W, Kato M, Schadendorf D, Umansky V. Activation of p38 mitogen-activated protein kinase drives dendritic cells to become tolerogenic in ret transgenic mice spontaneously developing melanoma. Clin Cancer Res. 2009;15:4382-90 pubmed publisher..We suggest that new strategies of melanoma immunotherapy can include inhibitors of p38 MAPK activity in DCs. ..
- Gul K, Ozdemir D, Ugras S, Inancli S, Ersoy R, Cakir B. Coexistent familial nonmultiple endocrine neoplasia medullary thyroid carcinoma and papillary thyroid carcinoma associated with RET polymorphism. Am J Med Sci. 2010;340:60-3 pubmed publisher..This case is the first in the literature to report coexistent familial nonmultiple endocrine neoplasia medullary thyroid cancer and papillary thyroid carcinoma related with a RET polymorphism (S904S in exon 15). ..
- Tyagi G, Carnes K, Morrow C, Kostereva N, Ekman G, Meling D, et al. Loss of Etv5 decreases proliferation and RET levels in neonatal mouse testicular germ cells and causes an abnormal first wave of spermatogenesis. Biol Reprod. 2009;81:258-66 pubmed publisher..In addition, ETV5 has critical effects on neonatal spermatogonial proliferation, which may involve impaired signaling through the RET receptor. ..
- Fischer I, Schulze S, Kuhn C, Friese K, Walzel H, Markert U, et al. Inhibiton of RET and JAK2 signals and upregulation of VEGFR3 phosphorylation in vitro by galectin-1 in trophoblast tumor cells BeWo. Placenta. 2009;30:1078-82 pubmed publisher..Our data suggest that phosphorylation of these RTKs could be involved in cell differentiation processes that could be responsible for the already known effect of gal-1 on BeWo cells, the inhibition of proliferation. ..
- Wang H, Hughes I, Planer W, Parsadanian A, Grider J, Vohra B, et al. The timing and location of glial cell line-derived neurotrophic factor expression determine enteric nervous system structure and function. J Neurosci. 2010;30:1523-38 pubmed publisher..Thus, changes in GDNF expression can create a wide variety of alterations in ENS structure and function and may in part contribute to human motility disorders. ..
- Kurotsuchi A, Murakumo Y, Jijiwa M, Kurokawa K, Itoh Y, Kodama Y, et al. Analysis of DOK-6 function in downstream signaling of RET in human neuroblastoma cells. Cancer Sci. 2010;101:1147-55 pubmed publisher..These findings indicate that DOK-6 is involved in RET signaling with less influence when compared with DOK-1, DOK-4, and SHC. ..
- Dackiw A. The surgical management of medullary thyroid cancer. Otolaryngol Clin North Am. 2010;43:365-74, ix pubmed publisher..Prognosis, genetic testing, surgical technique, and re-operation are also discussed. ..
- Cornes B, Tang C, Leon T, Hui K, So M, Miao X, et al. Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population. PLoS ONE. 2010;5:e10918 pubmed publisher..This suggests that RET(R114H) is a founder mutation for HSCR in the Chinese population. ..
- Toledo R, Wagner S, Coutinho F, Lourenço D, Azevedo J, Longuini V, et al. High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene. J Clin Endocrinol Metab. 2010;95:1318-27 pubmed publisher..Previous studies have shown that double RET mutations may be associated with unusual multiple endocrine neoplasia type 2 (MEN 2) phenotypes...
- Lanckohr C, Kasprzynski A, Klein Hitpass L, Homann H, Lehnhardt M, Muller O, et al. [Identification of genes over-expressed in myxoid/round cell liposarcoma. DNA microarray analysis and immunohistochemical correlation]. Pathologe. 2010;31:60-6 pubmed publisher..For the molecular pathogenesis of myxoid/round cell liposarcoma our findings imply the involvement of these four genes in the deregulation of the cell cycle, especially as cdk4 and cyclin D2 are target genes of c-myc. ..
- Villani G, Di Domenico C, Musella A, Cecere F, Di Napoli D, Di Natale P. Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. Brain Res. 2009;1279:99-108 pubmed publisher..Extending our previous study, findings reported in the present paper show that oxidative stress and all the analyzed stress-related pathological changes occur very early in the disease course, most likely before one month of age. ..
- Fujita T, Fujimori M. [The treatment of medullary thyroid cancer]. Gan To Kagaku Ryoho. 2009;36:1627-31 pubmed..Specific RET mutations are associated with each of the MEN2 syndromes and with the aggressiveness of MTC. Consequently, the nature of the RET mutation should guide major management decisions and inform the treatment strategy for MTC. ..
- Cerrato A, De Falco V, Santoro M. Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets. J Mol Endocrinol. 2009;43:143-55 pubmed publisher..Understanding genetic lesions that occur in MTC is a prerequisite to identifying molecular therapeutic targets in MTC and in improving the efficacy of RET-targeted therapies. ..
- Tang C, Sribudiani Y, Miao X, de Vries A, Burzynski G, So M, et al. Fine mapping of the 9q31 Hirschsprung's disease locus. Hum Genet. 2010;127:675-83 pubmed publisher..Our finding is supported by the role of IKBKAP in the development of the nervous system. ..
- Das T, Cagan R. Drosophila as a novel therapeutic discovery tool for thyroid cancer. Thyroid. 2010;20:689-95 pubmed publisher..In the future, rapid pairing of new genomic information with increasingly complex fly models will aid us in efforts to further tailor drug treatments toward personalized medicine. ..
- Muzza M, Cordella D, Bombled J, Bressac de Paillerets B, Guizzardi F, Francis Z, et al. Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur J Endocrinol. 2010;162:771-7 pubmed publisher..In addition, on the basis of these functional data, it is advisable to extend the genetic screening to all the first-degree relatives of the MTC patients, and to perform a strict follow-up of familial carriers. ..
- Hong D, Sebti S, Newman R, Blaskovich M, Ye L, Gagel R, et al. Phase I trial of a combination of the multikinase inhibitor sorafenib and the farnesyltransferase inhibitor tipifarnib in advanced malignancies. Clin Cancer Res. 2009;15:7061-8 pubmed publisher..Our study shows that the combination of tipifarnib and sorafenib is well tolerated. Activity was seen, especially in patients with medullary thyroid cancer, a tumor characterized by RET mutations. ..
- Wu T, Tsai T, Chang H, Su C, Li S, Lai H, et al. Polymorphisms of the RET gene in hirschsprung disease, anorectal malformation and intestinal pseudo-obstruction in Taiwan. J Formos Med Assoc. 2010;109:32-8 pubmed..This study strengthens the association of specific RET SNP alleles with typical HD in Taiwan. ..
- Zuercher W, Turunen B, Lackey K. Current review of small molecule Ret kinase inhibitors. Mini Rev Med Chem. 2010;10:138-46 pubmed..Furthermore, we compile a comprehensive list of Ret kinase inhibitors and describe clinical results of advanced assets with Ret inhibitory activity. ..
- Pazaitou Panayiotou K, Giatzakis C, Koutsodontis G, Vratimos A, Chrisoulidou A, Konstantinidis T, et al. Identification of two novel mutations in the RET proto-oncogene in the same family. Thyroid. 2010;20:401-6 pubmed publisher..These data suggest that the novel in-frame deletion was the disease-causing mutation in the deceased sister. The effect of the 2458C>T mutation on the activity of the kinase is under investigation. ..
- Zhu W, Hai T, Ye L, Cote G. Medullary thyroid carcinoma cell lines contain a self-renewing CD133+ population that is dependent on ret proto-oncogene activity. J Clin Endocrinol Metab. 2010;95:439-44 pubmed publisher..These findings may provide new insights to develop more promising therapy for MTC. ..
- Farhi J, Ao A, Fisch B, Zhang X, Garor R, Abir R. Glial cell line-derived neurotrophic factor (GDNF) and its receptors in human ovaries from fetuses, girls, and women. Fertil Steril. 2010;93:2565-71 pubmed publisher..The presence of the receptors of GDNF in the GCs of human primordial follicles suggests that GDNF may be involved in the regulation of primordial follicular activation. ..
- Wattanachanya L, Bunworasate U, Plengpanich W, Houngngam N, Buranasupkajorn P, Sunthornyothin S, et al. Bilateral pheochromocytoma during the postpartum period. Arch Gynecol Obstet. 2009;280:1055-8 pubmed publisher..Early detection and appropriate management can prevent serious maternal and fetal complications. We also reviewed the literature of MEN2A-affected pregnancies. ..
- Mishra A, Agrawal V, Krishnani N, Mishra S. Prevalence of RET/PTC expression in papillary thyroid carcinoma and its correlation with prognostic factors in a north Indian population. J Postgrad Med. 2009;55:171-5 pubmed publisher..However, uniform techniques of detection and large international collaborative studies could clear the uncertainties regarding the prognostic importance of RET/PTC. ..
- Pacini F, Castagna M, Cipri C, Schlumberger M. Medullary thyroid carcinoma. Clin Oncol (R Coll Radiol). 2010;22:475-85 pubmed publisher..Carriers of the RET gene are candidates for prophylactic thyroidectomy at different ages depending on the risk associated with the specific RET mutations. ..
- Mundt E, Bates M. Genetics of Hirschsprung disease and anorectal malformations. Semin Pediatr Surg. 2010;19:107-17 pubmed publisher..We and others have shown that genetic factors play an important role in the pathogenesis of ARMs, and many mouse genetic models suggest molecular pathways that may be altered in ARMs. ..
- Li L, Su Y, Zhao C, Xu Q. Role of Nurr1 and Ret in inducing rat embryonic neural precursors to dopaminergic neurons. Neurol Res. 2009;31:534-40 pubmed publisher..As a cooperator, Ret seems to work together with Nurr1 in the development of DA neurons. ..
- Koga K, Hattori Y, Komori M, Narishima R, Yamasaki M, Hakoshima M, et al. Combination of RET siRNA and irinotecan inhibited the growth of medullary thyroid carcinoma TT cells and xenografts via apoptosis. Cancer Sci. 2010;101:941-7 pubmed publisher..These findings that RET siRNA enhanced sensitivity for CPT-11 will provide a novel strategy for the treatment of MTC with RET mutation. ..
- Darlow J, Molloy N, Green A, Puri P, Barton D. The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland. Hum Mutat. 2009;30:E612-7 pubmed publisher..We find no evidence of any influence of RET SNP rs1799939 on pVUR phenotype. ..
- Cascon A, López Jiménez E, Landa I, Leskela S, Leandro García L, Maliszewska A, et al. Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. Horm Metab Res. 2009;41:672-5 pubmed publisher..Finally, the analysis of SDHB should always be performed because of its association to malignancy and the low penetrance of mutations affecting this gene. ..
- Richardson D, Mulligan L. Direct visualization of vesicle maturation and plasma membrane protein trafficking. J Fluoresc. 2010;20:401-5 pubmed publisher..This method improves on static and less discriminatory methods, providing a tool for analysis of real-time vesicle trafficking that is applicable to many systems. ..
- Ye L, Santarpia L, Gagel R. The evolving field of tyrosine kinase inhibitors in the treatment of endocrine tumors. Endocr Rev. 2010;31:578-99 pubmed publisher..We will also discuss the adverse effects related to TKI treatment and the mechanisms involved. Finally, we will summarize the challenges associated with use of this class of compounds and potential solutions. ..
- Takano T. [Fetal cell carcinogenesis hypothesis and the prospect of future laboratory tests]. Rinsho Byori. 2009;57:761-8 pubmed..In FACS-mQ, cells are sorted by a specific gene expression pattern, and the gene expression profile in sorted cells can be easily analyzed. ..
- Mandai K, Guo T, St Hillaire C, Meabon J, Kanning K, Bothwell M, et al. LIG family receptor tyrosine kinase-associated proteins modulate growth factor signals during neural development. Neuron. 2009;63:614-27 pubmed publisher..These findings show that LIGs physically interact with RTKs and modulate their activities to control axonal extension, guidance and branching. ..
- Kjaer S, Hanrahan S, Totty N, McDonald N. Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations. Nat Struct Mol Biol. 2010;17:726-31 pubmed publisher..Our findings provide a key conceptual framework and means of testing and predicting genotype-phenotype correlations in HSCR. ..
- Zafon C, Obiols G. [The mitogen-activated protein kinase (MAPK) signaling pathway in papillary thyroid cancer. From the molecular bases to clinical practice]. Endocrinol Nutr. 2009;56:176-86 pubmed publisher..Several new drugs are being tested, such as small molecule tyrosine kinase inhibitors. Some of these recently developed agents have begun to be used with promising results. ..
- Mian C, Barollo S, Zambonin L, Pennelli G, Bernante P, Pelizzo M, et al. Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation. Fam Cancer. 2009;8:379-82 pubmed publisher..In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism...
- Rotondi M, Ercolino T, Fonte R, Lagonigro M, Leporati P, Villani L, et al. Occurrence of medullary thyroid carcinoma, bronchial carcinoid tumor, and papillary thyroid carcinoma in a family bearing the RET G691S polymorphism. J Endocrinol Invest. 2009;32:115-8 pubmed..The occurrence of apparently unrelated NET in the same subject, or within a family, should be regarded as a challenge for deeper investigations into the possible oncogenic role of this genetic alteration...
- Zafon C, Castellvi J, Obiols G. [Usefulness of the immunohistochemical analysis of several molecular markers in the characterization of papillary thyroid carcinoma with initial lymph node metastasis]. Endocrinol Nutr. 2010;57:165-9 pubmed publisher..Immunohistochemical analysis of several molecular markers could be useful in the phenotypic characterization of PTC. Application of these markers could enhance diagnosis and improve the management of patients with thyroid cancer. ..
- Aron L, Klein P, Pham T, Kramer E, Wurst W, Klein R. Pro-survival role for Parkinson's associated gene DJ-1 revealed in trophically impaired dopaminergic neurons. PLoS Biol. 2010;8:e1000349 pubmed publisher..A better understanding of the molecular connections between trophic signaling, cellular stress and aging could uncover new targets for drug development in PD. ..
- Chang C, Yang W, Su Y, Wu I, Chang T. Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. J Formos Med Assoc. 2009;108:402-8 pubmed publisher..Molecular scanning of the RET gene in MEN 2 and MTC in Taiwanese patients probably should be limited to exons 10, 11 and 16, initially to be cost-effective. ..
- Pederiva F, Lopez R, Rodriguez J, Martinez L, Tovar J. Bronchopulmonary innervation defects in infants and rats with congenital diaphragmatic hernia. J Pediatr Surg. 2010;45:360-5 pubmed publisher..Because bronchopulmonary innervation controls airway smooth muscle, vessels, and glandular secretions, it is tempting to hypothesize that these deficiencies might play a role in respiratory morbidity in CDH. ..
- Schulte K, Machens A, Fugazzola L, McGregor A, Diaz Cano S, Izatt L, et al. The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A. J Clin Endocrinol Metab. 2010;95:E92-7 pubmed publisher..A strong genotype-phenotype correlation results in major implications for the clinical approach. More information on less common mutations is needed to advance specific guidance...
- Frank Raue K, Rondot S, Raue F. Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. Mol Cell Endocrinol. 2010;322:2-7 pubmed publisher..MEN 2 provides a unique model for early prevention and cure of cancer and for the roles of stratified mutation-based diagnosis and therapy of carriers...
- Flavin R, Jackl G, Finn S, Smyth P, Ring M, O Regan E, et al. RET/PTC rearrangement occurring in primary peritoneal carcinoma. Int J Surg Pathol. 2009;17:187-97 pubmed publisher..These rearrangements may not be directly implicated in tumor growth; rather representing "passenger" mutations reflecting RET instability in secondary tumor subclones. ..
- Raue F, Frank Raue K. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens). 2009;8:23-8 pubmed..MEN2 provides a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers. ..
- Vendettuoli D, Di Rocco G, Patrizi G, Giannotti D, Santoro A, Redler A. [Association between thyroiditis and cancer. Our experience]. G Chir. 2010;31:286-8 pubmed
- Zhou G, Wei Y, Chen X, Jiang X, Li X, Ning G, et al. Diagnosis and surgical treatment of multiple endocrine neoplasia. Chin Med J (Engl). 2009;122:1495-500 pubmed..Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN...
- Hasani Ranjbar S, Amoli M, Ebrahim Habibi A, Haghpanah V, Hejazi M, Soltani A, et al. Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease. Fam Cancer. 2009;8:465-71 pubmed publisher..VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene. ..
- Galleguillos D, Fuentealba J, Gomez L, Saver M, Gomez A, Nash K, et al. Nurr1 regulates RET expression in dopamine neurons of adult rat midbrain. J Neurochem. 2010;114:1158-67 pubmed publisher..Nurr1 induction of RET promoter is independent of NBRE elements. These results show that the expression of RET in rat adult SN is regulated by Nurr1 and suggest that RET is a transcriptional target of this nuclear receptor. ..
- Gockel H, Schumacher J, Gockel I, Lang H, Haaf T, Nothen M. Achalasia: will genetic studies provide insights?. Hum Genet. 2010;128:353-64 pubmed publisher..The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research. ..
- Capdevila J, Perez Garcia J, Obiols G, Tabernero J. Targeted therapies in thyroid cancer. Target Oncol. 2009;4:275-85 pubmed publisher..The development of new, targeted therapies and their encouraging initial results have opened a hopeful opportunity of treatment for these orphan therapy tumor patients. ..
- Foti R, Zucchelli S, Biagioli M, Roncaglia P, Vilotti S, Calligaris R, et al. Parkinson disease-associated DJ-1 is required for the expression of the glial cell line-derived neurotrophic factor receptor RET in human neuroblastoma cells. J Biol Chem. 2010;285:18565-74 pubmed publisher..Furthermore, it suggests that hypoxia may play an important role in PD. ..
- Mologni L, Rostagno R, Brussolo S, Knowles P, Kjaer S, Murray Rust J, et al. Synthesis, structure-activity relationship and crystallographic studies of 3-substituted indolin-2-one RET inhibitors. Bioorg Med Chem. 2010;18:1482-96 pubmed publisher..Crystallographic analysis confirmed predictions from molecular modelling and helped refine SAR results. These data provide important information for the development of indolinone inhibitors for the treatment of RET-driven cancers. ..
- Krentz A, Murphy M, Kim S, Cook M, Capel B, Zhu R, et al. The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency. Proc Natl Acad Sci U S A. 2009;106:22323-8 pubmed publisher..This work reveals a genetic link between testicular dysgenesis, pluripotency regulation, and teratoma susceptibility that is highly sensitive to genetic background and to gene dosage...
- Erlic Z, Hoffmann M, Sullivan M, Franke G, Peczkowska M, Harsch I, et al. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab. 2010;95:308-13 pubmed publisher..This observation of coincident DNA variants, both reported as pathogenic, in two known susceptibility genes prompted the question of their pathogenic relevance...
- Iwashita T, Kruger G, Pardal R, Kiel M, Morrison S. Hirschsprung disease is linked to defects in neural crest stem cell function. Science. 2003;301:972-6 pubmed..Gene expression profiling, combined with reverse genetics and analyses of stem cell function, suggests that Hirschsprung disease is caused by defects in neural crest stem cell function. ..
- Barker S, Bale S, Booker J, Buller A, Das S, Friedman K, et al. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn. 2009;11:553-61 pubmed publisher..All DNA samples are available from Coriell Cell Repositories and characterization information can be found on the GeT-RM website. ..
- Facello B, Castaldo L, De Martino L, Lucini C. Glial cell line-derived neurotrophic factor in Purkinje cells of adult zebrafish: an autocrine mode of action?. Neurosci Lett. 2009;465:133-7 pubmed publisher..These results demonstrated the expression of the GDNF receptorial complex in adult zebrafish cerebellum and suggest an autocrine mode of action of GDNF in Purkinje cells. ..
- Fiore A, Fuziwara C, Kimura E. High iodine concentration attenuates RET/PTC3 oncogene activation in thyroid follicular cells. Thyroid. 2009;19:1249-56 pubmed publisher..These findings contribute to a better understanding of the effect of iodine on thyroid follicular cells, particularly how it may play a protective role during RET/PTC3 oncogene activation. ..
- Nasser T, Qari F. Pheochromocytoma, papillary thyroid carcinoma. Saudi Med J. 2009;30:1087-90 pubmed..The final pathology was pheochromocytoma and papillary thyroid carcinoma. An analysis of c-ret porto-oncogene mutation yielded a negative result. This unusual association of 2 tumors represents a new entity. ..
- de Pontual L, Zaghloul N, Thomas S, Davis E, McGaughey D, Dollfus H, et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A. 2009;106:13921-6 pubmed publisher..We also demonstrate that these genes interact genetically in vivo to modulate gut innervation, and that this interaction likely occurs through complementary, yet independent, pathways that converge on the same biological process. ..
- Griseri P, Vos Y, Giorda R, Gimelli S, Beri S, Santamaria G, et al. Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). Eur J Hum Genet. 2009;17:483-90 pubmed publisher..2265delC, different additional factors related to RET-dependent and -independent pathways which may have contributed to the genesis of enteric phenotype in the present patient. ..