Fibrillin-1 (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Fibrillin-1" in English language version.

refsWebsite

Global rank English rank

40nih.gov

4^th place

24doi.org

2^nd place

3semanticscholar.org

11^th place

8^th place

2ensembl.org

1,626^th place

1,007^th place

1omim.org

4,380^th place

4,305^th place

1harvard.edu

18^th place

17^th place

1ugent.be

3,695^th place

3,560^th place

1handle.net

102^nd place

76^th place

doi.org

Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (February 1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics. 56 (1): 70–7. doi:10.1006/geno.1998.5697. PMID 10036187.
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, et al. (January 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". Journal of Medical Genetics. 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539.
Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, et al. (April 2016). "Asprosin, a Fasting-Induced Glucogenic Protein Hormone". Cell. 165 (3): 566–79. doi:10.1016/j.cell.2016.02.063. PMC 4852710. PMID 27087445.
Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, et al. (April 2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene". European Journal of Medical Genetics. 57 (5): 230–4. doi:10.1016/j.ejmg.2014.02.012. PMID 24613577.
Ramachandra CJ, Mehta A, Guo KW, Wong P, Tan JL, Shim W (2015). "Molecular pathogenesis of Marfan syndrome". International Journal of Cardiology. 187: 585–91. doi:10.1016/j.ijcard.2015.03.423. PMID 25863307.
Quondamatteo F, Reinhardt DP, Charbonneau NL, Pophal G, Sakai LY, Herken R (December 2002). "Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development". Matrix Biology. 21 (8): 637–46. doi:10.1016/s0945-053x(02)00100-2. PMID 12524050.
Votteler M, Berrio DA, Horke A, Sabatier L, Reinhardt DP, Nsair A, et al. (June 2013). "Elastogenesis at the onset of human cardiac valve development". Development. 140 (11): 2345–53. doi:10.1242/dev.093500. PMC 3912871. PMID 23637335.
Ammash NM, Sundt TM, Connolly HM (January 2008). "Marfan syndrome-diagnosis and management". Current Problems in Cardiology. 33 (1): 7–39. doi:10.1016/j.cpcardiol.2007.10.001. PMID 18155514.
Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, et al. (October 2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics. 23 (19): 5271–82. doi:10.1093/hmg/ddu224. PMC 4159151. PMID 24833718.
Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, et al. (August 2009). "Circulating transforming growth factor-beta in Marfan syndrome". Circulation. 120 (6): 526–32. doi:10.1161/CIRCULATIONAHA.108.841981. PMC 2779568. PMID 19635970.
von Kodolitsch Y, Robinson PN (June 2007). "Marfan syndrome: an update of genetics, medical and surgical management". Heart. 93 (6): 755–60. doi:10.1136/hrt.2006.098798. PMC 1955191. PMID 17502658.
Bergman R, Nevet MJ, Gescheidt-Shoshany H, Pimienta AL, Reinstein E (August 2014). "Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene". JAMA Dermatology. 150 (8): 885–9. doi:10.1001/jamadermatol.2013.10036. PMID 24740214.
Keene DR, Jordan CD, Reinhardt DP, Ridgway CC, Ono RN, Corson GM, et al. (August 1997). "Fibrillin-1 in human cartilage: developmental expression and formation of special banded fibers". The Journal of Histochemistry and Cytochemistry. 45 (8): 1069–82. doi:10.1177/002215549704500805. PMID 9267468.
Martínez-Quintana E, Rodríguez-González F, Garay-Sánchez P, Tugores A (August 2014). "A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features". Molecular Syndromology. 5 (5): 236–40. doi:10.1159/000358846. PMC 4188161. PMID 25337071.
Charbonneau NL, Carlson EJ, Tufa S, Sengle G, Manalo EC, Carlberg VM, et al. (August 2010). "In vivo studies of mutant fibrillin-1 microfibrils". The Journal of Biological Chemistry. 285 (32): 24943–55. doi:10.1074/jbc.M110.130021. PMC 2915730. PMID 20529844.
Barrett PM, Topol EJ (January 2013). "The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease". Heart. 99 (2): 83–90. doi:10.1136/heartjnl-2012-301840. PMID 22942299. S2CID 19962009.
Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, et al. (June 2020). "A positively selected FBN1 missense variant reduces height in Peruvian individuals". Nature. 582 (7811): 234–239. Bibcode:2020Natur.582..234A. doi:10.1038/s41586-020-2302-0. PMC 7410362. PMID 32499652.
Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, et al. (November 2005). "Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome". American Journal of Medical Genetics. Part A. 139 (1): 2–8. doi:10.1002/ajmg.a.30981. PMID 16222666. S2CID 33663469.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. (July 2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885. S2CID 13895128.
Sakai LY, Keene DR, Engvall E (December 1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". The Journal of Cell Biology. 103 (6 Pt 1): 2499–509. doi:10.1083/jcb.103.6.2499. PMC 2114568. PMID 3536967.
Smallridge RS, Whiteman P, Werner JM, Campbell ID, Handford PA, Downing AK (April 2003). "Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1". The Journal of Biological Chemistry. 278 (14): 12199–206. doi:10.1074/jbc.M208266200. PMID 12511552.
Benke K, Ágg B, Szilveszter B, Tarr F, Nagy ZB, Pólos M, et al. (2013). "The role of transforming growth factor-beta in Marfan syndrome". Cardiology Journal. 20 (3): 227–34. doi:10.5603/CJ.2013.0066. PMID 23788295.
Dietz HC (October 2007). "2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines". American Journal of Human Genetics. 81 (4): 662–7. doi:10.1086/521409. PMC 2227916. PMID 20529617.
Chaudhry SS, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM (January 2007). "Fibrillin-1 regulates the bioavailability of TGFbeta1". The Journal of Cell Biology. 176 (3): 355–67. doi:10.1083/jcb.200608167. PMC 2063961. PMID 17242066.

ensembl.org

May2017.archive.ensembl.org

GRCh38: Ensembl release 89: ENSG00000166147 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000027204 – Ensembl, May 2017

handle.net

hdl.handle.net

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. (July 2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885. S2CID 13895128.

harvard.edu

ui.adsabs.harvard.edu

Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, et al. (June 2020). "A positively selected FBN1 missense variant reduces height in Peruvian individuals". Nature. 582 (7811): 234–239. Bibcode:2020Natur.582..234A. doi:10.1038/s41586-020-2302-0. PMC 7410362. PMID 32499652.

nih.gov

pubmed.ncbi.nlm.nih.gov

Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (February 1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics. 56 (1): 70–7. doi:10.1006/geno.1998.5697. PMID 10036187.
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, et al. (January 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". Journal of Medical Genetics. 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539.
Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, et al. (April 2016). "Asprosin, a Fasting-Induced Glucogenic Protein Hormone". Cell. 165 (3): 566–79. doi:10.1016/j.cell.2016.02.063. PMC 4852710. PMID 27087445.
Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, et al. (April 2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene". European Journal of Medical Genetics. 57 (5): 230–4. doi:10.1016/j.ejmg.2014.02.012. PMID 24613577.
Ramachandra CJ, Mehta A, Guo KW, Wong P, Tan JL, Shim W (2015). "Molecular pathogenesis of Marfan syndrome". International Journal of Cardiology. 187: 585–91. doi:10.1016/j.ijcard.2015.03.423. PMID 25863307.
Quondamatteo F, Reinhardt DP, Charbonneau NL, Pophal G, Sakai LY, Herken R (December 2002). "Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development". Matrix Biology. 21 (8): 637–46. doi:10.1016/s0945-053x(02)00100-2. PMID 12524050.
Votteler M, Berrio DA, Horke A, Sabatier L, Reinhardt DP, Nsair A, et al. (June 2013). "Elastogenesis at the onset of human cardiac valve development". Development. 140 (11): 2345–53. doi:10.1242/dev.093500. PMC 3912871. PMID 23637335.
Ammash NM, Sundt TM, Connolly HM (January 2008). "Marfan syndrome-diagnosis and management". Current Problems in Cardiology. 33 (1): 7–39. doi:10.1016/j.cpcardiol.2007.10.001. PMID 18155514.
Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, et al. (October 2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics. 23 (19): 5271–82. doi:10.1093/hmg/ddu224. PMC 4159151. PMID 24833718.
Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, et al. (August 2009). "Circulating transforming growth factor-beta in Marfan syndrome". Circulation. 120 (6): 526–32. doi:10.1161/CIRCULATIONAHA.108.841981. PMC 2779568. PMID 19635970.
Katz KW, Greathead MM, Cook RC, Britz R (June 1976). "Experiences in the diagnosis of brucellosis in dairy cows". Journal of the South African Veterinary Association. 47 (2): 97–100. PMID 940103.
von Kodolitsch Y, Robinson PN (June 2007). "Marfan syndrome: an update of genetics, medical and surgical management". Heart. 93 (6): 755–60. doi:10.1136/hrt.2006.098798. PMC 1955191. PMID 17502658.
Bergman R, Nevet MJ, Gescheidt-Shoshany H, Pimienta AL, Reinstein E (August 2014). "Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene". JAMA Dermatology. 150 (8): 885–9. doi:10.1001/jamadermatol.2013.10036. PMID 24740214.
Keene DR, Jordan CD, Reinhardt DP, Ridgway CC, Ono RN, Corson GM, et al. (August 1997). "Fibrillin-1 in human cartilage: developmental expression and formation of special banded fibers". The Journal of Histochemistry and Cytochemistry. 45 (8): 1069–82. doi:10.1177/002215549704500805. PMID 9267468.
Martínez-Quintana E, Rodríguez-González F, Garay-Sánchez P, Tugores A (August 2014). "A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features". Molecular Syndromology. 5 (5): 236–40. doi:10.1159/000358846. PMC 4188161. PMID 25337071.
Charbonneau NL, Carlson EJ, Tufa S, Sengle G, Manalo EC, Carlberg VM, et al. (August 2010). "In vivo studies of mutant fibrillin-1 microfibrils". The Journal of Biological Chemistry. 285 (32): 24943–55. doi:10.1074/jbc.M110.130021. PMC 2915730. PMID 20529844.
Barrett PM, Topol EJ (January 2013). "The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease". Heart. 99 (2): 83–90. doi:10.1136/heartjnl-2012-301840. PMID 22942299. S2CID 19962009.
Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, et al. (June 2020). "A positively selected FBN1 missense variant reduces height in Peruvian individuals". Nature. 582 (7811): 234–239. Bibcode:2020Natur.582..234A. doi:10.1038/s41586-020-2302-0. PMC 7410362. PMID 32499652.
Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, et al. (November 2005). "Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome". American Journal of Medical Genetics. Part A. 139 (1): 2–8. doi:10.1002/ajmg.a.30981. PMID 16222666. S2CID 33663469.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. (July 2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885. S2CID 13895128.
Sakai LY, Keene DR, Engvall E (December 1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". The Journal of Cell Biology. 103 (6 Pt 1): 2499–509. doi:10.1083/jcb.103.6.2499. PMC 2114568. PMID 3536967.
Smallridge RS, Whiteman P, Werner JM, Campbell ID, Handford PA, Downing AK (April 2003). "Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1". The Journal of Biological Chemistry. 278 (14): 12199–206. doi:10.1074/jbc.M208266200. PMID 12511552.
Benke K, Ágg B, Szilveszter B, Tarr F, Nagy ZB, Pólos M, et al. (2013). "The role of transforming growth factor-beta in Marfan syndrome". Cardiology Journal. 20 (3): 227–34. doi:10.5603/CJ.2013.0066. PMID 23788295.
Dietz HC (October 2007). "2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines". American Journal of Human Genetics. 81 (4): 662–7. doi:10.1086/521409. PMC 2227916. PMID 20529617.
Chaudhry SS, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM (January 2007). "Fibrillin-1 regulates the bioavailability of TGFbeta1". The Journal of Cell Biology. 176 (3): 355–67. doi:10.1083/jcb.200608167. PMC 2063961. PMID 17242066.

ncbi.nlm.nih.gov

"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, et al. (January 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". Journal of Medical Genetics. 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539.
Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, et al. (April 2016). "Asprosin, a Fasting-Induced Glucogenic Protein Hormone". Cell. 165 (3): 566–79. doi:10.1016/j.cell.2016.02.063. PMC 4852710. PMID 27087445.
Votteler M, Berrio DA, Horke A, Sabatier L, Reinhardt DP, Nsair A, et al. (June 2013). "Elastogenesis at the onset of human cardiac valve development". Development. 140 (11): 2345–53. doi:10.1242/dev.093500. PMC 3912871. PMID 23637335.
"FBN1 fibrillin 1". Entrez Gene.
Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, et al. (October 2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics. 23 (19): 5271–82. doi:10.1093/hmg/ddu224. PMC 4159151. PMID 24833718.
Matt P, Schoenhoff F, Habashi J, Holm T, Van Erp C, Loch D, et al. (August 2009). "Circulating transforming growth factor-beta in Marfan syndrome". Circulation. 120 (6): 526–32. doi:10.1161/CIRCULATIONAHA.108.841981. PMC 2779568. PMID 19635970.
von Kodolitsch Y, Robinson PN (June 2007). "Marfan syndrome: an update of genetics, medical and surgical management". Heart. 93 (6): 755–60. doi:10.1136/hrt.2006.098798. PMC 1955191. PMID 17502658.
Martínez-Quintana E, Rodríguez-González F, Garay-Sánchez P, Tugores A (August 2014). "A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features". Molecular Syndromology. 5 (5): 236–40. doi:10.1159/000358846. PMC 4188161. PMID 25337071.
Charbonneau NL, Carlson EJ, Tufa S, Sengle G, Manalo EC, Carlberg VM, et al. (August 2010). "In vivo studies of mutant fibrillin-1 microfibrils". The Journal of Biological Chemistry. 285 (32): 24943–55. doi:10.1074/jbc.M110.130021. PMC 2915730. PMID 20529844.
Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, et al. (June 2020). "A positively selected FBN1 missense variant reduces height in Peruvian individuals". Nature. 582 (7811): 234–239. Bibcode:2020Natur.582..234A. doi:10.1038/s41586-020-2302-0. PMC 7410362. PMID 32499652.
Sakai LY, Keene DR, Engvall E (December 1986). "Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils". The Journal of Cell Biology. 103 (6 Pt 1): 2499–509. doi:10.1083/jcb.103.6.2499. PMC 2114568. PMID 3536967.
Dietz HC (October 2007). "2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines". American Journal of Human Genetics. 81 (4): 662–7. doi:10.1086/521409. PMC 2227916. PMID 20529617.
Chaudhry SS, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM (January 2007). "Fibrillin-1 regulates the bioavailability of TGFbeta1". The Journal of Cell Biology. 176 (3): 355–67. doi:10.1083/jcb.200608167. PMC 2063961. PMID 17242066.

omim.org

Online Mendelian Inheritance in Man (OMIM): FIBRILLIN 1; FBN1 - 134797

semanticscholar.org

api.semanticscholar.org

Barrett PM, Topol EJ (January 2013). "The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease". Heart. 99 (2): 83–90. doi:10.1136/heartjnl-2012-301840. PMID 22942299. S2CID 19962009.
Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, et al. (November 2005). "Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome". American Journal of Medical Genetics. Part A. 139 (1): 2–8. doi:10.1002/ajmg.a.30981. PMID 16222666. S2CID 33663469.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. (July 2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885. S2CID 13895128.

ugent.be

biblio.ugent.be

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. (July 2010). "The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–85. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955. PMID 20591885. S2CID 13895128.