RECQL4

RecQ protein-like 4, also known as RECQL4, is a human gene.cite web | title = Entrez Gene: RECQL4 RecQ protein-like 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9401| accessdate = ] PBB_Summary
section_title =
summary_text = Mutations in "RECQL4" are associated with the autosomal recessive disease Rothmund-Thomson Syndrome. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone). [cite journal | author=Wang LL, Gannavarapu A, Kozinetz CA, "et al." |title=Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. |journal=J. Natl. Cancer Inst. |volume=95 |issue= 9 |pages= 669–74 |year= 2003 |pmid= 12734318 |doi= ] "RECQL4" gets it name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the "BLM" gene and Werner syndrome is associated with mutations in the "WRN" gene. [cite journal | author=Kitao S, Lindor NM, Shiratori M, "et al." |title=Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. |journal=Genomics |volume=61 |issue= 3 |pages= 268–76 |year= 2000 |pmid= 10552928 |doi= 10.1006/geno.1999.5959 ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kellermayer R |title=The versatile RECQL4. |journal=Genet. Med. |volume=8 |issue= 4 |pages= 213–6 |year= 2006 |pmid= 16617241 |doi= 10.1097/01.gim.0000214457.58378.1a
*cite journal | author=Soukup T |title=Intrafusal fibre types in rat limb muscle spindles: morphological and histochemical characteristics. |journal=Histochemistry |volume=47 |issue= 1 |pages= 43–57 |year= 1976 |pmid= 133085 |doi=
*cite journal | author=Kitao S, Ohsugi I, Ichikawa K, "et al." |title=Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. |journal=Genomics |volume=54 |issue= 3 |pages= 443–52 |year= 1999 |pmid= 9878247 |doi= 10.1006/geno.1998.5595
*cite journal | author=Kitao S, Shimamoto A, Goto M, "et al." |title=Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. |journal=Nat. Genet. |volume=22 |issue= 1 |pages= 82–4 |year= 1999 |pmid= 10319867 |doi= 10.1038/8788
*cite journal | author=Yankiwski V, Marciniak RA, Guarente L, Neff NF |title=Nuclear structure in normal and Bloom syndrome cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 10 |pages= 5214–9 |year= 2000 |pmid= 10779560 |doi= 10.1073/pnas.090525897
*cite journal | author=Kawabe T, Tsuyama N, Kitao S, "et al." |title=Differential regulation of human RecQ family helicases in cell transformation and cell cycle. |journal=Oncogene |volume=19 |issue= 41 |pages= 4764–72 |year= 2000 |pmid= 11032027 |doi= 10.1038/sj.onc.1203841
*cite journal | author=Wang LL, Worley K, Gannavarapu A, "et al." |title=Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. |journal=Am. J. Hum. Genet. |volume=71 |issue= 1 |pages= 165–7 |year= 2002 |pmid= 12016592 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Roversi G, Beghini A, Zambruno G, "et al." |title=Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. |journal=J. Hum. Genet. |volume=48 |issue= 2 |pages= 107–9 |year= 2003 |pmid= 12601557 |doi= 10.1007/s100380300016
*cite journal | author=Wang LL, Gannavarapu A, Clericuzio CL, "et al." |title=Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. |journal=Am. J. Med. Genet. A |volume=118 |issue= 3 |pages= 299–301 |year= 2004 |pmid= 12673665 |doi= 10.1002/ajmg.a.10057
*cite journal | author=Beghini A, Castorina P, Roversi G, "et al." |title=RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. |journal=Am. J. Med. Genet. A |volume=120 |issue= 3 |pages= 395–9 |year= 2004 |pmid= 12838562 |doi= 10.1002/ajmg.a.20154
*cite journal | author=Siitonen HA, Kopra O, Kääriäinen H, "et al." |title=Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. |journal=Hum. Mol. Genet. |volume=12 |issue= 21 |pages= 2837–44 |year= 2004 |pmid= 12952869 |doi= 10.1093/hmg/ddg306
*cite journal | author=Brandenberger R, Wei H, Zhang S, "et al." |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971
*cite journal | author=Nishijo K, Nakayama T, Aoyama T, "et al." |title=Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. |journal=Int. J. Cancer |volume=111 |issue= 3 |pages= 367–72 |year= 2004 |pmid= 15221963 |doi= 10.1002/ijc.20269
*cite journal | author=Yin J, Kwon YT, Varshavsky A, Wang W |title=RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. |journal=Hum. Mol. Genet. |volume=13 |issue= 20 |pages= 2421–30 |year= 2005 |pmid= 15317757 |doi= 10.1093/hmg/ddh269
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Sengupta S, Shimamoto A, Koshiji M, "et al." |title=Tumor suppressor p53 represses transcription of RECQ4 helicase. |journal=Oncogene |volume=24 |issue= 10 |pages= 1738–48 |year= 2005 |pmid= 15674334 |doi= 10.1038/sj.onc.1208380
*cite journal | author=Sangrithi MN, Bernal JA, Madine M, "et al." |title=Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. |journal=Cell |volume=121 |issue= 6 |pages= 887–98 |year= 2005 |pmid= 15960976 |doi= 10.1016/j.cell.2005.05.015

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes