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Transcriptome analysis revealed impaired cAMP responsiveness in PHF21A-deficient human cells.

Porter RS, Murata-Nakamura Y, Nagasu H, Kim HG, Iwase S.

Neuroscience. 2017 May 29. pii: S0306-4522(17)30365-2. doi: 10.1016/j.neuroscience.2017.05.031. [Epub ahead of print]


Genome-wide detection of copy number variation in Chinese indigenous sheep using an ovine high-density 600 K SNP array.

Ma Q, Liu X, Pan J, Ma L, Ma Y, He X, Zhao Q, Pu Y, Li Y, Jiang L.

Sci Rep. 2017 Apr 19;7(1):912. doi: 10.1038/s41598-017-00847-9.


Genetic advances in craniosynostosis.

Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA.

Am J Med Genet A. 2017 May;173(5):1406-1429. doi: 10.1002/ajmg.a.38159. Epub 2017 Feb 4. Review.


Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Farlie PG, Baker NL, Yap P, Tan TY.

Mol Syndromol. 2016 Nov;7(6):312-321. Epub 2016 Oct 29. Review.


Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid2.

Chang YT, Chaturvedi P, Schock EN, Brugmann SA.

Front Physiol. 2016 Oct 17;7:468. eCollection 2016.


Methylation pattern of ALX4 gene promoter as a potential biomarker for blood-based early detection of colorectal cancer.

Salehi R, Atapour N, Vatandoust N, Farahani N, Ahangari F, Salehi AR.

Adv Biomed Res. 2015 Nov 30;4:252. doi: 10.4103/2277-9175.170677. eCollection 2015.


Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses.

Metzger J, Karwath M, Tonda R, Beltran S, Águeda L, Gut M, Gut IG, Distl O.

BMC Genomics. 2015 Oct 9;16:764. doi: 10.1186/s12864-015-1977-3.


A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle.

Brenig B, Schütz E, Hardt M, Scheuermann P, Freick M.

PLoS One. 2015 Jun 15;10(6):e0129208. doi: 10.1371/journal.pone.0129208. eCollection 2015.


Mosaic structural variation in children with developmental disorders.

King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, Harris J, Hellens SW, Homfray T, Innes J, Jones EA, Joss S, Kulkarni A, Mansour S, Morris AD, Parker MJ, Porteous DJ, Shihab HA, Smith BH, Tatton-Brown K, Tolmie JL, Trzaskowski M, Vasudevan PC, Wakeling E, Wright M, Plomin R, Timpson NJ, Hurles ME; Deciphering Developmental Disorders Study.

Hum Mol Genet. 2015 May 15;24(10):2733-45. doi: 10.1093/hmg/ddv033. Epub 2015 Jan 29.


Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.

Xu X, Pulavarti SV, Eletsky A, Huang YJ, Acton TB, Xiao R, Everett JK, Montelione GT, Szyperski T.

J Struct Funct Genomics. 2014 Dec;15(4):201-7. doi: 10.1007/s10969-014-9184-z. Epub 2014 Jun 19.


Modeling anterior development in mice: diet as modulator of risk for neural tube defects.

Kappen C.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):333-56. doi: 10.1002/ajmg.c.31380. Epub 2013 Oct 4. Review.


Initiation of early osteoblast differentiation events through the direct transcriptional regulation of Msx2 by FOXC1.

Mirzayans F, Lavy R, Penner-Chea J, Berry FB.

PLoS One. 2012;7(11):e49095. doi: 10.1371/journal.pone.0049095. Epub 2012 Nov 7.


Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.

Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.


Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene.

McGonnell IM, Graham A, Richardson J, Fish JL, Depew MJ, Dee CT, Holland PW, Takahashi T.

Evol Dev. 2011 Jul-Aug;13(4):343-51. doi: 10.1111/j.1525-142X.2011.00489.x.


Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Shoubridge C, Tan MH, Fullston T, Cloosterman D, Coman D, McGillivray G, Mancini GM, Kleefstra T, Gécz J.

Pathogenetics. 2010 Jan 5;3:1. doi: 10.1186/1755-8417-3-1.


Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations.

Nakamura T, Gulick J, Pratt R, Robbins J.

Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41. doi: 10.1073/pnas.0903302106. Epub 2009 Aug 24.


RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Li Y, Pan W, Xu W, He N, Chen X, Liu H, Darryl Quarles L, Zhou H, Xiao Z.

Mutagenesis. 2009 Sep;24(5):425-31. doi: 10.1093/mutage/gep025. Epub 2009 Jun 10.


Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

Furniss D, Kan SH, Taylor IB, Johnson D, Critchley PS, Giele HP, Wilkie AO.

J Med Genet. 2009 Nov;46(11):730-5. doi: 10.1136/jmg.2009.066027. Epub 2009 May 7.


Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO.

Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.

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