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Items: 1 to 50 of 152

1.

Unique and non-redundant function of csf1r paralogues in regulation and evolution of post-embryonic development of the zebrafish.

Caetano-Lopes J, Henke K, Urso K, Duryea J, Charles JF, Warman ML, Harris MP.

Development. 2020 Jan 13. pii: dev.181834. doi: 10.1242/dev.181834. [Epub ahead of print]

PMID:
31932352
2.

Somatic mutations in intracranial arteriovenous malformations.

Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK.

PLoS One. 2019 Dec 31;14(12):e0226852. doi: 10.1371/journal.pone.0226852. eCollection 2019.

3.

Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFβ signaling on trabecular bone but not on cortical bone.

Kaupp S, Horan DJ, Lim KE, Feldman HA, Robling AG, Warman ML, Jacobsen CM.

Bone. 2020 Feb;131:115084. doi: 10.1016/j.bone.2019.115084. Epub 2019 Oct 21.

PMID:
31648079
4.

Arteriovenous malformation associated with a HRAS mutation.

Konczyk DJ, Goss JA, Smits PJ, Huang AY, Al-Ibraheemi A, Sudduth CL, Warman ML, Greene AK.

Hum Genet. 2019 Dec;138(11-12):1419-1421. doi: 10.1007/s00439-019-02072-y. Epub 2019 Oct 21.

PMID:
31637524
5.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML.

Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21.

PMID:
31633310
6.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.

Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26.

PMID:
31564437
7.

Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

Goss JA, Konczyk DJ, Smits PJ, Kozakewich HPW, Alomari AI, Al-Ibraheemi A, Taghinia AH, Dickie BH, Adams DM, Fishman SJ, Mulliken JB, Warman ML, Greene AK.

Angiogenesis. 2019 Nov;22(4):547-552. doi: 10.1007/s10456-019-09678-w. Epub 2019 Sep 5.

PMID:
31486960
8.

Expression of a Degradation-Resistant β-Catenin Mutant in Osteocytes Protects the Skeleton From Mechanodeprivation-Induced Bone Wasting.

Bullock WA, Hoggatt AM, Horan DJ, Lewis KJ, Yokota H, Hann S, Warman ML, Sebastian A, Loots GG, Pavalko FM, Robling AG.

J Bone Miner Res. 2019 Oct;34(10):1964-1975. doi: 10.1002/jbmr.3812. Epub 2019 Aug 5.

PMID:
31173667
9.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T.

Nat Med. 2019 Apr;25(4):583-590. doi: 10.1038/s41591-019-0353-2. Epub 2019 Feb 25.

10.

Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism.

Kang KS, Hong JM, Horan DJ, Lim KE, Bullock WA, Bruzzaniti A, Hann S, Warman ML, Robling AG.

Bone. 2019 Mar;120:166-175. doi: 10.1016/j.bone.2018.10.007. Epub 2018 Oct 25.

PMID:
30409757
11.

SHP2 regulates skeletal cell fate by modifying SOX9 expression and transcriptional activity.

Zuo C, Wang L, Kamalesh RM, Bowen ME, Moore DC, Dooner MS, Reginato AM, Wu Q, Schorl C, Song Y, Warman ML, Neel BG, Ehrlich MG, Yang W.

Bone Res. 2018 Apr 6;6:12. doi: 10.1038/s41413-018-0013-z. eCollection 2018.

12.

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.

Michel ME, Konczyk DJ, Yeung KS, Murillo R, Vivero MP, Hall AM, Zurakowski D, Adams D, Gupta A, Huang AY, Chung BHY, Warman ML.

Clin Genet. 2018 May;93(5):1075-1080. doi: 10.1111/cge.13195. Epub 2018 Jan 25.

13.

The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.

Bird IM, Kim SH, Schweppe DK, Caetano-Lopes J, Robling AG, Charles JF, Gygi SP, Warman ML, Smits PJ.

Development. 2018 Jan 8;145(1). pii: dev156588. doi: 10.1242/dev.156588.

14.

SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes.

Wang L, Huang J, Moore DC, Zuo C, Wu Q, Xie L, von der Mark K, Yuan X, Chen D, Warman ML, Ehrlich MG, Yang W.

Sci Rep. 2017 Oct 5;7(1):12699. doi: 10.1038/s41598-017-12767-9.

15.

Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease.

Caetano-Lopes J, Lessard SG, Hann S, Espinoza K, Kang KS, Lim KE, Horan DJ, Noonan HR, Hu D, Baron R, Robling AG, Warman ML.

Bone. 2017 Dec;105:253-261. doi: 10.1016/j.bone.2017.09.007. Epub 2017 Sep 20.

16.

Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.

Tafaj O, Hann S, Ayturk U, Warman ML, Jüppner H.

Bone. 2017 Oct;103:177-187. doi: 10.1016/j.bone.2017.07.001. Epub 2017 Jul 8.

17.

Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis.

Couto JA, Konczyk DJ, Vivero MP, Kozakewich HPW, Upton J, Fu X, Padwa BL, Mulliken JB, Warman ML, Greene AK.

Pediatr Res. 2017 Nov;82(5):850-854. doi: 10.1038/pr.2017.155. Epub 2017 Aug 2.

18.

Confocal imaging of mouse mandibular condyle cartilage.

He Y, Zhang M, Huang AY, Cui Y, Bai D, Warman ML.

Sci Rep. 2017 Mar 7;7:43848. doi: 10.1038/srep43848.

19.

CRISPR/CAS9 Technologies.

Williams BO, Warman ML.

J Bone Miner Res. 2017 May;32(5):883-888. doi: 10.1002/jbmr.3086. Epub 2017 Feb 23. Review.

20.

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Couto JA, Huang AY, Konczyk DJ, Goss JA, Fishman SJ, Mulliken JB, Warman ML, Greene AK.

Am J Hum Genet. 2017 Mar 2;100(3):546-554. doi: 10.1016/j.ajhg.2017.01.018. Epub 2017 Feb 9.

21.

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

Couto JA, Ayturk UM, Konczyk DJ, Goss JA, Huang AY, Hann S, Reeve JL, Liang MG, Bischoff J, Warman ML, Greene AK.

Angiogenesis. 2017 Aug;20(3):303-306. doi: 10.1007/s10456-016-9538-1. Epub 2017 Jan 24.

22.

Superficial cells are self-renewing chondrocyte progenitors, which form the articular cartilage in juvenile mice.

Li L, Newton PT, Bouderlique T, Sejnohova M, Zikmund T, Kozhemyakina E, Xie M, Krivanek J, Kaiser J, Qian H, Dyachuk V, Lassar AB, Warman ML, Barenius B, Adameyko I, Chagin AS.

FASEB J. 2017 Mar;31(3):1067-1084. doi: 10.1096/fj.201600918R. Epub 2016 Dec 13.

23.

Induced superficial chondrocyte death reduces catabolic cartilage damage in murine posttraumatic osteoarthritis.

Zhang M, Mani SB, He Y, Hall AM, Xu L, Li Y, Zurakowski D, Jay GD, Warman ML.

J Clin Invest. 2016 Aug 1;126(8):2893-902. doi: 10.1172/JCI83676. Epub 2016 Jul 18.

24.

Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta.

Jacobsen CM, Schwartz MA, Roberts HJ, Lim KE, Spevak L, Boskey AL, Zurakowski D, Robling AG, Warman ML.

Bone. 2016 Sep;90:127-32. doi: 10.1016/j.bone.2016.06.005. Epub 2016 Jun 11.

25.

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.

Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HPW, Bischoff J, Greene AK, Warman ML.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.010. Epub 2016 Jun 2. No abstract available.

26.

Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta.

Masci M, Wang M, Imbert L, Barnes AM, Spevak L, Lukashova L, Huang Y, Ma Y, Marini JC, Jacobsen CM, Warman ML, Boskey AL.

Bone. 2016 Jun;87:120-9. doi: 10.1016/j.bone.2016.04.011. Epub 2016 Apr 13.

27.

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.

Ayturk UM, Couto JA, Hann S, Mulliken JB, Williams KL, Huang AY, Fishman SJ, Boyd TK, Kozakewich HP, Bischoff J, Greene AK, Warman ML.

Am J Hum Genet. 2016 Apr 7;98(4):789-95. doi: 10.1016/j.ajhg.2016.03.009. Erratum in: Am J Hum Genet. 2016 Jun 2;98 (6):1271.

28.

Critical Endothelial Regulation by LRP5 during Retinal Vascular Development.

Huang W, Li Q, Amiry-Moghaddam M, Hokama M, Sardi SH, Nagao M, Warman ML, Olsen BR.

PLoS One. 2016 Mar 31;11(3):e0152833. doi: 10.1371/journal.pone.0152833. eCollection 2016.

29.

Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia.

Niziolek PJ, Bullock W, Warman ML, Robling AG.

PLoS One. 2015 Nov 10;10(11):e0140775. doi: 10.1371/journal.pone.0140775. eCollection 2015.

30.

Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.

Couto JA, Huang L, Vivero MP, Kamitaki N, Maclellan RA, Mulliken JB, Bischoff J, Warman ML, Greene AK.

Plast Reconstr Surg. 2016 Jan;137(1):77e-82e. doi: 10.1097/PRS.0000000000001868.

31.

Lubricin restoration in a mouse model of congenital deficiency.

Hill A, Waller KA, Cui Y, Allen JM, Smits P, Zhang LX, Ayturk UM, Hann S, Lessard SG, Zurakowski D, Warman ML, Jay GD.

Arthritis Rheumatol. 2015 Nov;67(11):3070-81. doi: 10.1002/art.39276.

32.

Mechanistic and therapeutic insights gained from studying rare skeletal diseases.

Tosi LL, Warman ML.

Bone. 2015 Jul;76:67-75. doi: 10.1016/j.bone.2015.03.016. Epub 2015 Mar 27. Review.

33.

High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo.

Niziolek PJ, MacDonald BT, Kedlaya R, Zhang M, Bellido T, He X, Warman ML, Robling AG.

J Bone Miner Res. 2015 Oct;30(10):1822-30. doi: 10.1002/jbmr.2514.

34.

A somatic MAP3K3 mutation is associated with verrucous venous malformation.

Couto JA, Vivero MP, Kozakewich HP, Taghinia AH, Mulliken JB, Warman ML, Greene AK.

Am J Hum Genet. 2015 Mar 5;96(3):480-6. doi: 10.1016/j.ajhg.2015.01.007. Epub 2015 Feb 26.

35.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A.

Hum Mutat. 2015 Apr;36(4):474-81. doi: 10.1002/humu.22773. Epub 2015 Mar 16.

36.

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R.

J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11.

37.

Anti-lubricin monoclonal antibodies created using lubricin-knockout mice immunodetect lubricin in several species and in patients with healthy and diseased joints.

Ai M, Cui Y, Sy MS, Lee DM, Zhang LX, Larson KM, Kurek KC, Jay GD, Warman ML.

PLoS One. 2015 Feb 2;10(2):e0116237. doi: 10.1371/journal.pone.0116237. eCollection 2015.

38.

Identification of a Prg4-expressing articular cartilage progenitor cell population in mice.

Kozhemyakina E, Zhang M, Ionescu A, Ayturk UM, Ono N, Kobayashi A, Kronenberg H, Warman ML, Lassar AB.

Arthritis Rheumatol. 2015 May;67(5):1261-73. doi: 10.1002/art.39030.

39.

AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.

Boscolo E, Coma S, Luks VL, Greene AK, Klagsbrun M, Warman ML, Bischoff J.

Angiogenesis. 2015 Apr;18(2):151-62. doi: 10.1007/s10456-014-9453-2. Epub 2014 Nov 26.

40.

Reply to Lrp5 regulation of bone mass and gut serotonin synthesis.

Cui Y, Niziolek PJ, MacDonald BT, Alenina N, Matthes S, Jacobsen CM, Conlon RA, Brommage R, Powell DR, He X, Bader M, Williams BO, Warman ML, Robling AG.

Nat Med. 2014 Nov;20(11):1229-30. doi: 10.1038/nm.3697. No abstract available.

41.

A normative study of the synovial fluid proteome from healthy porcine knee joints.

Bennike T, Ayturk U, Haslauer CM, Froehlich JW, Proffen BL, Barnaby O, Birkelund S, Murray MM, Warman ML, Stensballe A, Steen H.

J Proteome Res. 2014 Oct 3;13(10):4377-87. doi: 10.1021/pr500587x. Epub 2014 Sep 3.

42.

SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates.

Bowen ME, Ayturk UM, Kurek KC, Yang W, Warman ML.

PLoS Genet. 2014 May 29;10(5):e1004364. doi: 10.1371/journal.pgen.1004364. eCollection 2014.

43.

Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta.

Jacobsen CM, Barber LA, Ayturk UM, Roberts HJ, Deal LE, Schwartz MA, Weis M, Eyre D, Zurakowski D, Robling AG, Warman ML.

J Bone Miner Res. 2014 Oct;29(10):2297-306. doi: 10.1002/jbmr.2198.

44.

Protective effects of C-type natriuretic peptide on linear growth and articular cartilage integrity in a mouse model of inflammatory arthritis.

Bükülmez H, Khan F, Bartels CF, Murakami S, Ortiz-Lopez A, Sattar A, Haqqi TM, Warman ML.

Arthritis Rheumatol. 2014 Jan;66(1):78-89. doi: 10.1002/art.38199.

45.

PIK3CA activating mutations in facial infiltrating lipomatosis.

Maclellan RA, Luks VL, Vivero MP, Mulliken JB, Zurakowski D, Padwa BL, Warman ML, Greene AK, Kurek KC.

Plast Reconstr Surg. 2014 Jan;133(1):12e-9e. doi: 10.1097/01.prs.0000436822.26709.7c.

PMID:
24374682
46.

Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome.

Kedlaya R, Veera S, Horan DJ, Moss RE, Ayturk UM, Jacobsen CM, Bowen ME, Paszty C, Warman ML, Robling AG.

Sci Transl Med. 2013 Nov 13;5(211):211ra158. doi: 10.1126/scitranslmed.3006627.

47.

A Wisp3 Cre-knockin allele produces efficient recombination in spermatocytes during early prophase of meiosis I.

Hann S, Kvenvold L, Newby BN, Hong M, Warman ML.

PLoS One. 2013 Sep 10;8(9):e75116. doi: 10.1371/journal.pone.0075116. eCollection 2013.

48.

Autopodial development is selectively impaired by misexpression of chordin-like 1 in the chick limb.

Allen JM, McGlinn E, Hill A, Warman ML.

Dev Biol. 2013 Sep 1;381(1):159-69. doi: 10.1016/j.ydbio.2013.06.003. Epub 2013 Jun 10.

49.

An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations.

Ayturk UM, Jacobsen CM, Christodoulou DC, Gorham J, Seidman JG, Seidman CE, Robling AG, Warman ML.

J Bone Miner Res. 2013 Oct;28(10):2081-93. doi: 10.1002/jbmr.1946.

50.

Role of lubricin and boundary lubrication in the prevention of chondrocyte apoptosis.

Waller KA, Zhang LX, Elsaid KA, Fleming BC, Warman ML, Jay GD.

Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):5852-7. doi: 10.1073/pnas.1219289110. Epub 2013 Mar 25.

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