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Items: 1 to 20 of 136

1.

A new biometric: in-utero growth curves for metacarpal and phalangeal lengths reveals an embryonic patterning ratio.

Rao R, Gornbein J, Afshar Y, Platt LD, DeVore GR, Krakow D.

Prenat Diagn. 2018 Nov 29. doi: 10.1002/pd.5397. [Epub ahead of print]

PMID:
30488473
2.

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.

Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D.

Sci Transl Med. 2018 Sep 19;10(459). pii: eaat9356. doi: 10.1126/scitranslmed.aat9356.

PMID:
30232230
3.

The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases.

Fafilek B, Balek L, Bosakova MK, Varecha M, Nita A, Gregor T, Gudernova I, Krenova J, Ghosh S, Piskacek M, Jonatova L, Cernohorsky NH, Zieba JT, Kostas M, Haugsten EM, Wesche J, Erneux C, Trantirek L, Krakow D, Krejci P.

Sci Signal. 2018 Sep 18;11(548). pii: eaap8608. doi: 10.1126/scisignal.aap8608.

PMID:
30228226
4.

Comparative Characteristics of Patients with Type 2 Diabetes Mellitus Treated by Bariatric Surgery Versus Medical Treatment: a Multicentre Analysis of 277,862 Patients from the German/Austrian DPV Database.

Laubner K, Prinz N, Brückel J, Serwas A, Altmeier M, Welp R, Krakow D, Groß F, Bollow E, Seufert J, Holl RW; DPV Initiative.

Obes Surg. 2018 Nov;28(11):3366-3373. doi: 10.1007/s11695-018-3380-z.

PMID:
29980988
5.

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.

Duran I, Tenney J, Warren CM, Sarukhanov A, Csukasi F, Skalansky M, Iruela-Arispe ML, Krakow D.

Am J Med Genet A. 2018 Mar;176(3):649-656. doi: 10.1002/ajmg.a.38600. Epub 2018 Jan 24.

PMID:
29363855
6.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P.

Hum Mol Genet. 2018 Mar 15;27(6):1093-1105. doi: 10.1093/hmg/ddy031.

PMID:
29360984
7.

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

Li B, Balasubramanian K, Krakow D, Cohn DH.

BMC Genomics. 2017 Dec 20;18(1):983. doi: 10.1186/s12864-017-4378-y.

8.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

9.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics, Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.

PMID:
29068549
10.

Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome.

Balek L, Nemec P, Konik P, Kunova Bosakova M, Varecha M, Gudernova I, Medalova J, Krakow D, Krejci P.

Cell Signal. 2018 Jan;42:144-154. doi: 10.1016/j.cellsig.2017.10.003. Epub 2017 Oct 13.

PMID:
29030113
11.

Lean diabetes in middle-aged adults: A joint analysis of the German DIVE and DPV registries.

Hartmann B, Lanzinger S, Bramlage P, Groß F, Danne T, Wagner S, Krakow D, Zimmermann A, Malcharzik C, Holl RW.

PLoS One. 2017 Aug 21;12(8):e0183235. doi: 10.1371/journal.pone.0183235. eCollection 2017.

12.

Osteogenesis imperfecta.

Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O.

Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Review.

PMID:
28820180
13.

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH.

Am J Med Genet A. 2017 Sep;173(9):2415-2421. doi: 10.1002/ajmg.a.38349. Epub 2017 Jul 25.

14.

Both the frequency of HbA1c testing and the frequency of self-monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from Germany and Austria.

Schwandt A, Best F, Biester T, Grünerbel A, Kopp F, Krakow D, Laimer M, Wagner C, Holl RW; Diabetes-Patienten-Verlaufsdokumentation (DPV) initiative.

Diabetes Metab Res Rev. 2017 Oct;33(7). doi: 10.1002/dmrr.2908. Epub 2017 Jun 14.

PMID:
28544457
15.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38267. [Epub ahead of print]

PMID:
28498505
16.

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D.

Cilia. 2017 Apr 10;6:7. doi: 10.1186/s13630-017-0051-y. eCollection 2017.

17.

Prevalence of elevated liver enzymes in adults with type 1 diabetes: A multicentre analysis of the German/Austrian DPV database.

Stadler M, Bollow E, Fritsch M, Kerner W, Schuetz-Fuhrmann I, Krakow D, Merger S, Riedl M, Jehle P, Holl RW; DPV Initiative and the German BMBF Competence Network Diabetes mellitus.

Diabetes Obes Metab. 2017 Aug;19(8):1171-1178. doi: 10.1111/dom.12929. Epub 2017 Apr 10.

PMID:
28256088
18.

Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone.

Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH.

J Bone Miner Res. 2017 Jun;32(6):1354-1367. doi: 10.1002/jbmr.3108. Epub 2017 Mar 20.

19.

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.

Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D.

Sci Rep. 2017 Feb 16;7:41803. doi: 10.1038/srep41803.

20.

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.

Duran I, Martin JH, Weis MA, Krejci P, Konik P, Li B, Alanay Y, Lietman C, Lee B, Eyre D, Cohn DH, Krakow D.

J Bone Miner Res. 2017 Jun;32(6):1309-1319. doi: 10.1002/jbmr.3095. Epub 2017 Apr 6.

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