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Jose Badano

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Magdalena Cardenas-Rodriguez; Martín Graña; Florencia Irigoín; Daniel P S Osborn; Héctor Romero; Philip L Beales; Jose L Badano
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
Cecilia Gascue; Nicholas Katsanis; Gabriela Libisch; Yangfan P Liu; Hugo Naya; Carlos Robello; Perciliz L Tan; Soledad Astrada; Magdalena Cardenas-Rodriguez; Tamara Fernandez-Calero; Jose L Badano
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
Cecilia Gascue; Nicholas Katsanis; Jose L Badano
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.

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All Publications

2013: Magdalena Cardenas-Rodriguez; Martín Graña; Florencia Irigoín; Daniel P S Osborn; Héctor Romero; Philip L Beales; Jose L Badano
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
Human genetics 2013;132(1):91-105.
2012: Cecilia Gascue; Nicholas Katsanis; Gabriela Libisch; Yangfan P Liu; Hugo Naya; Carlos Robello; Perciliz L Tan; Soledad Astrada; Magdalena Cardenas-Rodriguez; Tamara Fernandez-Calero; Jose L Badano
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
Journal of cell science 2012;125(Pt 2):362-75.
2011: Cecilia Gascue; Nicholas Katsanis; Jose L Badano
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
Pediatric nephrology (Berlin, Germany) 2011;26(8):1181-95.
2010: Norann Zaghloul; Yangjian Liu; Jantje M Gerdes; Cecilia Gascue; Edwin C Oh; Carmen C Leitch; Yana Bromberg; Jonathan Binkley; Rudolph L Leibel; Arend Sidow; Jose L Badano; Nicholas Katsanis
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(23):10602-7.
2008: Carmen C Leitch; Norann Zaghloul; Erica E Davis; Corinne Stoetzel; Anna Diaz Font; Suzanne Rix; Majid Alfadhel; Majid Al-Fadhel; Richard Alan Lewis; Wafaa Eyaid; Eyal Banin; Helene Dollfus; Philip L Beales; Jose L Badano; Nicholas Katsanis
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Nature genetics 2008;40(4):443-8.
2007: Jantje M Gerdes; Yangfan Liu; Norann Zaghloul; Carmen C Leitch; Shaneka S Lawson; Masaki Kato; Philip A Beachy; Philip L Beales; George N DeMartino; Shannon Fisher; Jose L Badano; Nicholas Katsanis
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.
Nature genetics 2007;39(11):1350-60.
2007: Helen R Dawe; Ursula M Smith; Andrew R Cullinane; Dianne Gerrelli; Phillip Cox; Jose L Badano; Sarah Blair-Reid; Nisha Sriram; Nicholas Katsanis; Tania Attie-Bitach; Simon C Afford; Andrew J Copp; Deirdre A Kelly; Keith Gull; Colin A Johnson
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Human molecular genetics 2007;16(2):173-86.
2006: Jose L Badano; Nicholas Katsanis
Life without centrioles: cilia in the spotlight.
Cell 2006;125(7):1228-30.
2006: Jose L Badano; Carmen C Leitch; Stephen J Ansley; Helen May-Simera; Shaneka Lawson; Richard Alan Lewis; Philip L Beales; Harry C Dietz; Shannon Fisher; Nicholas Katsanis
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
Nature 2006;439(7074):326-30.
2006: Jose L Badano; Norimasa Mitsuma; Philip L Beales; Nicholas Katsanis
The ciliopathies: an emerging class of human genetic disorders.
Annual review of genomics and human genetics 2006;7():125-48.
2005: Jose L Badano; Tanya M Teslovich; Nicholas Katsanis
The centrosome in human genetic disease.
Nature reviews. Genetics 2005;6(3):194-205.
2005: Jun Chul Kim; Young Y Ou; Jose L Badano; Muneer A Esmail; Carmen C Leitch; Elsa Fiedrich; Philip L Beales; John M Archibald; Nicholas Katsanis; Jerome B Rattner; Michel R Leroux
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
Journal of cell science 2005;118(Pt 5):1007-20.
2004: Heather M Kulaga; Carmen C Leitch; Erica R Eichers; Jose L Badano; Alysa Lesemann; Bethan E Hoskins; James R Lupski; Philip L Beales; Randall R Reed; Nicholas Katsanis
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Nature genetics 2004;36(9):994-8.
2004: Yanli Fan; Muneer A Esmail; Stephen J Ansley; Oliver E Blacque; Keith A Boroevich; Alison J Ross; Susan J Moore; Jose L Badano; Helen May-Simera; Deanna S Compton; Jane S Green; Richard Alan Lewis; Mieke M van Haelst; Patrick S Parfrey; David Baillie; Philip L Beales; Nicholas Katsanis; William S Davidson; Michel R Leroux
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Nature genetics 2004;36(9):989-93.
2004: Oliver E Blacque; Michael J Reardon; Chunmei Li; Jonathan McCarthy; Moe R Mahjoub; Stephen J Ansley; Jose L Badano; Allan K Mah; Philip L Beales; William S Davidson; Robert C Johnsen; Mark Audeh; Ronald H Plasterk; David Baillie; Nicholas Katsanis; Lynne M Quarmby; Stephen R Wicks; Michel R Leroux
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
Genes & development 2004;18(13):1630-42.
2004: Jun Chul Kim; Jose L Badano; Sonja Sibold; Muneer A Esmail; Josephine Hill; Bethan E Hoskins; Carmen C Leitch; Kerrie Venner; Stephen J Ansley; Alison J Ross; Michel R Leroux; Nicholas Katsanis; Philip L Beales
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
Nature genetics 2004;36(5):462-70.
2003: Stephen J Ansley; Jose L Badano; Oliver E Blacque; Josephine Hill; Bethan E Hoskins; Carmen C Leitch; Jun Chul Kim; Alison J Ross; Erica R Eichers; Tanya M Teslovich; Allan K Mah; Robert C Johnsen; John C Cavender; Richard Alan Lewis; Michel R Leroux; Philip L Beales; Nicholas Katsanis
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Nature 2003;425(6958):628-33.
2003: Jose L Badano; Jun Chul Kim; Bethan E Hoskins; Richard Alan Lewis; Stephen J Ansley; David J Cutler; Claudio Castellan; Philip L Beales; Michel R Leroux; Nicholas Katsanis
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Human molecular genetics 2003;12(14):1651-9.
2003: Philip L Beales; Jose L Badano; Alison J Ross; Stephen J Ansley; Bethan E Hoskins; Brigitta Kirsten; Charles A Mein; philippe froguel; Peter J Scambler; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
American journal of human genetics 2003;72(5):1187-99.
2003: Jose L Badano; Stephen J Ansley; Carmen C Leitch; Richard Alan Lewis; James R Lupski; Nicholas Katsanis
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
American journal of human genetics 2003;72(3):650-8.
2002: Jose L Badano; Nicholas Katsanis
Beyond Mendel: an evolving view of human genetic disease transmission.
Nature reviews. Genetics 2002;3(10):779-89.
2001: Nicholas Katsanis; Stephen J Ansley; Jose L Badano; Erica R Eichers; R A Lewis; Bethan E Hoskins; Peter J Scambler; William S Davidson; Philip L Beales; James R Lupski
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science (New York, N.Y.) 2001;293(5538):2256-9.
2001: Jose L Badano; Ken Inoue; Nicholas Katsanis; James R Lupski
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
Clinical chemistry 2001;47(5):838-43.
2000: YQ Wu; Jose L Badano; Christopher McCaskill; H Vogel; Lorraine Potocki; Lisa Shaffer
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
American journal of human genetics 2000;67(5):1327-32.