PHOX2B

An Error has occured retrieving Wikidata item for infobox PHOX2B‏ (Paired like homeobox 2b) هوَ بروتين يُشَفر بواسطة جين PHOX2B في الإنسان.

قراءة متعمقة

• Glas J، Seiderer J، Pasciuto G، وآخرون (2009). "rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population". Am. J. Gastroenterol. ج. 104 ع. 3: 665–72. DOI:10.1038/ajg.2008.65. PMID:19262523.
• Gaultier C، Trang H، Dauger S، Gallego J (2005). "Pediatric disorders with autonomic dysfunction: what role for PHOX2B?". Pediatr. Res. ج. 58 ع. 1: 1–6. DOI:10.1203/01.PDR.0000166755.29277.C4. PMID:15901893.
• Liu CP، Li XG، Lou JT، وآخرون (2009). "Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China". J. Pediatr. Surg. ج. 44 ع. 9: 1805–11. DOI:10.1016/j.jpedsurg.2008.12.009. PMID:19735829.
• Repetto GM، Corrales RJ، Abara SG، وآخرون (2009). "Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene". Acta Paediatr. ج. 98 ع. 1: 192–5. DOI:10.1111/j.1651-2227.2008.01039.x. PMID:18798833.
• Fan Y، Huang J، Kieran N، Zhu MY (2009). "Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells". J. Neurochem. ج. 110 ع. 5: 1502–13. DOI:10.1111/j.1471-4159.2009.06260.x. PMID:19573018.
• McGaughey DM، Stine ZE، Huynh JL، وآخرون (2009). "Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend". BMC Genomics. ج. 10: 8. DOI:10.1186/1471-2164-10-8. PMC:2630312. PMID:19128492.
• Jennings LJ، Yu M، Zhou L، وآخرون (2010). "Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers". Diagn. Mol. Pathol. ج. 19 ع. 4: 224–31. DOI:10.1097/PDM.0b013e3181eb92ff. PMID:21051998.
• Tu E، Bagnall RD، Duflou J، وآخرون (2010). "Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus". Hum. Pathol. ج. 41 ع. 3: 392–400. DOI:10.1016/j.humpath.2009.08.020. PMID:20004937.
• Janoueix-Lerosey I، Schleiermacher G، Delattre O (2010). "Molecular pathogenesis of peripheral neuroblastic tumors". Oncogene. ج. 29 ع. 11: 1566–79. DOI:10.1038/onc.2009.518. PMID:20101209.
• Longo L، Borghini S، Schena F، وآخرون (2008). "PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma". Int. J. Oncol. ج. 33 ع. 5: 985–91. DOI:10.3892/ijo_00000086. PMID:18949361.
• Hammel M، Klein M، Trips T، وآخرون (2009). "Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents". Klin Padiatr. ج. 221 ع. 5: 286–9. DOI:10.1055/s-0029-1220941. PMID:19707990.
• Arai H، Otagiri T، Sasaki A، وآخرون (2010). "Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion". J. Hum. Genet. ج. 55 ع. 1: 4–7. DOI:10.1038/jhg.2009.109. PMID:19881470.
• Lee P، Su YN، Yu CJ، وآخرون (2009). "PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood". Chest. ج. 135 ع. 2: 537–44. DOI:10.1378/chest.08-1664. PMID:19201717.
• Wu HT، Su YN، Hung CC، وآخرون (2009). "Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants". Hum. Mutat. ج. 30 ع. 4: 655–60. DOI:10.1002/humu.20929. PMID:19191321.
• Trochet D، Mathieu Y، Pontual L، وآخرون (2009). "In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation". Hum. Mutat. ج. 30 ع. 2: E421-31. DOI:10.1002/humu.20923. PMID:19058226.
• Dubreuil V، Thoby-Brisson M، Rallu M، وآخرون (2009). "Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons". J. Neurosci. ج. 29 ع. 47: 14836–46. DOI:10.1523/JNEUROSCI.2623-09.2009. PMID:19940179.
• Serra A، Häberle B، König IR، وآخرون (2008). "Rare occurrence of PHOX2b mutations in sporadic neuroblastomas". J. Pediatr. Hematol. Oncol. ج. 30 ع. 10: 728–32. DOI:10.1097/MPH.0b013e3181772141. PMID:19011468.
• Rudzinski E، Kapur RP (2010). "PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus". Pediatr. Dev. Pathol. ج. 13 ع. 4: 291–9. DOI:10.2350/09-07-0682-OA.1. PMID:19888871.
• Larkin EK، Patel SR، Goodloe RJ، وآخرون (2010). "A candidate gene study of obstructive sleep apnea in European Americans and African Americans". Am. J. Respir. Crit. Care Med. ج. 182 ع. 7: 947–53. DOI:10.1164/rccm.201002-0192OC. PMC:2970865. PMID:20538960.
• Lee JJ، Essers JB، Kugathasan S، وآخرون (2010). "Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study". Ann. Hum. Genet. ج. 74 ع. 6: 489–97. DOI:10.1111/j.1469-1809.2010.00606.x. PMC:2955808. PMID:20846217.