Search details
1.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Am J Hum Genet
; 103(2): 276-287, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30075114
2.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 29(6): 1054, 2020 04 15.
Article
in English
| MEDLINE | ID: mdl-32016392
3.
Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
PLoS Genet
; 10(1): e1004121, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24465224
4.
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.
Hum Mol Genet
; 23(15): 4035-42, 2014 Aug 01.
Article
in English
| MEDLINE | ID: mdl-24634143
5.
Connective tissue alterations in Fkbp10-/- mice.
Hum Mol Genet
; 23(18): 4822-31, 2014 Sep 15.
Article
in English
| MEDLINE | ID: mdl-24777781
6.
Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.
Mol Genet Metab
; 117(3): 378-82, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26693895
7.
E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-ß in the bone microenvironment.
Proc Natl Acad Sci U S A
; 110(18): 7336-41, 2013 Apr 30.
Article
in English
| MEDLINE | ID: mdl-23589896
8.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 22(5): 1026-38, 2013 Mar 01.
Article
in English
| MEDLINE | ID: mdl-23221805
9.
Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton.
Mol Genet Metab
; 115(1): 53-60, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25779879
10.
miRNA-34c regulates Notch signaling during bone development.
Hum Mol Genet
; 21(13): 2991-3000, 2012 Jul 01.
Article
in English
| MEDLINE | ID: mdl-22498974
11.
SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors.
Mol Ther
; 21(4): 767-74, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23358188
12.
Differential type I interferon-dependent transgene silencing of helper-dependent adenoviral vs. adeno-associated viral vectors in vivo.
Mol Ther
; 21(4): 796-805, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23319058
13.
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Neurogenetics
; 13(4): 333-9, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22890812
14.
Ascorbate synthesis pathway: dual role of ascorbate in bone homeostasis.
J Biol Chem
; 285(25): 19510-20, 2010 Jun 18.
Article
in English
| MEDLINE | ID: mdl-20410296
15.
Notch signaling contributes to the pathogenesis of human osteosarcomas.
Hum Mol Genet
; 18(8): 1464-70, 2009 Apr 15.
Article
in English
| MEDLINE | ID: mdl-19228774
16.
Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad.
Mol Ther
; 18(7): 1339-45, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20461064
17.
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
JCI Insight
; 5(4)2020 02 27.
Article
in English
| MEDLINE | ID: mdl-31990680
18.
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Hum Mutat
; 29(12): 1435-42, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18566967
19.
Brachy-syndactyly caused by loss of Sfrp2 function.
J Cell Physiol
; 217(1): 127-37, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18446812
20.
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.
JBMR Plus
; 2(4): 235-239, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-30283904