| Year |
Title |
Altmetric |
| 2021
|
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
Scientific Reports.
11.
2021
|
|
| 2021
|
Restoration of normal NF1 function with antisense morpholino treatment of recurrent pathogenic patient-specific variant c.1466a>G; p.Y489C.
Journal of Personalized Medicine.
11.
2021
|
|
| 2021
|
Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.
PLoS Genetics.
17.
2021
|
|
| 2021
|
A transgenic Alx4-CreER mouse to analyze anterior limb and nephric duct development.
Developmental Dynamics.
2021
|
|
| 2021
|
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Human Mutation.
2021
|
|
| 2021
|
Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
2021
|
|
| 2020
|
Humanized GPRC6A KGKY is a gain-of-function polymorphism in mice.
Scientific Reports.
10.
2020
|
|
| 2020
|
CHD7 regulates cardiovascular development through ATP-dependent and -independent activities
2020
|
|
| 2020
|
BBSome component BBS5 is required for cone photoreceptor protein trafficking and outer segment maintenance.
Investigative Ophthalmology and Visual Science.
61.
2020
|
|
| 2020
|
Mutation-Directed Therapeutics for Neurofibromatosis Type I.
Molecular Therapy : Nucleic Acids.
20:739-753.
2020
|
|
| 2019
|
Slowing ribosome velocity restores folding and function of mutant CFTR.
Journal of Clinical Investigation.
129:5236-5253.
2019
|
|
| 2019
|
Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands.
Journal of Biological Chemistry.
294:17060-17074.
2019
|
|
| 2019
|
Specific RANK Cytoplasmic Motifs Drive Osteoclastogenesis.
Journal of Bone and Mineral Research.
34:1938-1951.
2019
|
|
| 2019
|
Affinity purification of NF1 protein–protein interactors identifies keratins and neurofibromin itself as binding partners.
Genes.
10.
2019
|
|
| 2019
|
Multi-Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells.
Proteomics.
19.
2019
|
|
| 2019
|
Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney
2019
|
|
| 2019
|
Truncating PKHD1 and PKD2 mutations alter energy metabolism
2019
|
|
| 2019
|
Mks6 mutations reveal tissue-and cell type-specific roles for the cilia transition zone.
The FASEB Journal.
33:1440-1455.
2019
|
|
| 2018
|
NF1 deficiency correlates with estrogen receptor signaling and diminished survival in breast cancer.
npj Breast Cancer.
4.
2018
|
|
| 2018
|
A CreER mouse to study melanin concentrating hormone signaling in the developing brain
2018
|
|
| 2018
|
Neurofibromin (NF1) genetic variant structure–function analyses using a full-length mouse cDNA.
Human Mutation.
39:816-821.
2018
|
|
| 2018
|
Conditional knockout of N-Myc and STAT interactor disrupts normal mammary development and enhances metastatic ability of mammary tumors.
Oncogene.
37:1610-1623.
2018
|
|
| 2017
|
Improved Oviduct Transfer Surgery for Genetically Modified Rat Production..
Bio-protocol.
7.
2017
|
|
| 2017
|
Updated nomenclature for human and mouse neurofibromatosis type 1 genes.
Neurology Genetics.
3.
2017
|
|
| 2016
|
Sema6D acts downstream of bone morphogenetic protein signalling to promote atrioventricular cushion development in mice.
Cardiovascular Research.
112:532-542.
2016
|
|
| 2016
|
Generation of Mitochondrial-nuclear eXchange Mice via Pronuclear Transfer..
Bio-protocol.
6.
2016
|
|
| 2016
|
Increased trabecular bone and improved biomechanics in an osteocalcin-null rat model created by CRISPR/Cas9 technology
2016
|
|
| 2016
|
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I
2016
|
|
| 2016
|
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
PLoS Genetics.
12.
2016
|
|
| 2016
|
The tumor-associated glycosyltransferase ST6Gal-I regulates stem cell transcription factors and confers a cancer stem cell phenotype.
Cancer Research.
76:3978-3988.
2016
|
|
| 2016
|
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
Human Molecular Genetics.
25:1703-1713.
2016
|
|
| 2016
|
Novel hypomorphic alleles of the mouse tyrosinase gene induced by CRISPR-Cas9 nucleases cause non-albino pigmentation phenotypes.
PLoS ONE.
11.
2016
|
|
| 2016
|
Coiled-coil domain containing 42 (Ccdc42) is necessary for proper sperm development and male fertility in the mouse.
Developmental Biology.
412:208-218.
2016
|
|
| 2016
|
CRYβA3/A1-crystallin knockout develops nuclear cataract and causes impaired lysosomal cargo clearance and calpain activation.
PLoS ONE.
11.
2016
|
|
| 2015
|
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Genome Biology.
16.
2015
|
|
| 2015
|
Mitochondrial genetics regulate breast cancer Tumorigenicity and Metastatic potential.
Cancer Research.
75:4429-4436.
2015
|
|
| 2013
|
Erratum: Mitochondrial genetic background modulates bioenergetics and susceptibility to acute cardiac volume overload (Biochemical Journal (2013) 455 (157-167)).
Biochemical Journal.
456:147.
2013
|
|
| 2013
|
Mitochondrial genetic background modulates bioenergetics and susceptibility to acute cardiac volume overload.
Biochemical Journal.
455:157-167.
2013
|
|
| 2013
|
Effects of risperidone on energy balance in female C57BL/6J mice
2013
|
|
| 2013
|
An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue.
Cilia.
2.
2013
|
|
| 2013
|
Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice
2013
|
|
| 2012
|
Mammalian Clusterin associated protein 1 is an evolutionarily conserved protein required for ciliogenesis.
Cilia.
1.
2012
|
|
| 2012
|
Noninvasive bioluminescence imaging in small animals
2012
|
|
| 2012
|
Ubiquitous Brms1 expression is critical for mammary carcinoma metastasis suppression via promotion of apoptosis.
Clinical and Experimental Metastasis.
29:315-325.
2012
|
|
| 2011
|
ST6Gal-I regulates macrophage apoptosis via α2-6 sialylation of the TNFR1 death receptor.
Journal of Biological Chemistry.
286:39654-39662.
2011
|
|
| 2011
|
Genetic ablation of CD68 results in mice with increased bone and dysfunctional osteoclasts.
PLoS ONE.
6.
2011
|
|
| 2011
|
Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.
Developmental Biology.
360:66-76.
2011
|
|
| 2010
|
Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome.
Neurobiology of Disease.
39:169-180.
2010
|
|
| 2009
|
Risperidone alters food intake, core body temperature, and locomotor activity in mice.
Physiology and Behavior.
96:457-463.
2009
|
|
| 2009
|
Generating conditional mutants to analyze ciliary functions: the use of Cre-lox technology to disrupt cilia in specific organs..
Methods in Cell Biology.
93:305-330.
2009
|
|
| 2009
|
Utilization of conditional alleles to study the role of the primary cilium in obesity..
Methods in Cell Biology.
94:162-179.
2009
|
|
| 2008
|
Identification of Adropin as a Secreted Factor Linking Dietary Macronutrient Intake with Energy Homeostasis and Lipid Metabolism.
Cell Metabolism.
8:468-481.
2008
|
|
| 2008
|
G2E3 is a dual function ubiquitin ligase required for early embryonic development.
Journal of Biological Chemistry.
283:22304-22315.
2008
|
|
| 2008
|
Noninvasive bioluminescence imaging in small animals
2008
|
|
| 2007
|
Molecular identification of the human melanocortin-2 receptor responsible for ligand binding and signaling.
Biochemistry.
46:11389-11397.
2007
|
|
| 2007
|
Disruption of Intraflagellar Transport in Adult Mice Leads to Obesity and Slow-Onset Cystic Kidney Disease.
Current Biology.
17:1586-1594.
2007
|
|
| 2007
|
Structural insights into the role of the ACTH receptor cysteine residues on receptor function
2007
|
|
| 2007
|
Hyperphagia-mediated obesity in transgenic mice misexpressing the RNA-editing enzyme ADAR2.
Journal of Biological Chemistry.
282:22448-22459.
2007
|
|
| 2007
|
No effect of dietary fat on short-term weight gain in mice treated with atypical antipsychotic drugs.
International Journal of Obesity.
31:1014-1022.
2007
|
|
| 2006
|
Deficiency of P-selectin or P-selectin glycoprotein ligand-1 leads to accelerated development of glomerulonephritis and increased expression of CC chemokine ligand 2 in lupus-prone mice.
Journal of Immunology.
177:8748-8756.
2006
|
|
| 2005
|
HS014, a selective melanocortin-4 (MC4) receptor antagonist, modulates the behavioral effects of morphine in mice.
Psychopharmacology.
180:279-285.
2005
|
|
| 2005
|
Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance
2005
|
|
| 2003
|
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.
BMC Genomics.
4.
2003
|
|
| 2003
|
Putative targets of CNS melanocortin receptor activity.
Annals of the New York Academy of Sciences.
994:211-217.
2003
|
|
| 2000
|
A unique metabolic syndrome causes obesity in the melanocortin-3 receptor-deficient mouse..
Endocrinology.
141:3518-3521.
2000
|
|
| 2000
|
Abnormal adaptations to stress and impaired cardiovascular function in mice lacking corticotropin-releasing hormone receptor-2.
Nature Genetics.
24:403-409.
2000
|
|
| 2000
|
A unique metabolic syndrome causes obesity in the melanocortin-3 receptor-deficient mouse.
Endocrinology.
141:3518-3521.
2000
|
|
| 1998
|
Prevention of reflex natriuresis after acute unilateral nephrectomy by melanocortin receptor antagonists..
American Journal of Physiology.
274:R931-R938.
1998
|
|
| 1998
|
Prevention of reflex natriuresis after acute unilateral nephrectomy by melanocortin receptor antagonists
1998
|
|
| 1997
|
Role of melanocortinergic neurons in feeding and the agouti obesity syndrome.
The FASEB Journal.
11.
1997
|
|
| 1997
|
Analysis of osteocalcin expression in transgenic mice reveals a species difference in vitamin D regulation of mouse and human osteocalcin genes.
Journal of Bone and Mineral Research.
12:1570-1576.
1997
|
|
| 1997
|
Structural organization of the human vitamin D receptor chromosomal gene and its promoter.
1997
|
|
| 1997
|
Targeted disruption of the melanocortin-4 receptor results in obesity in mice.
Cell.
88:131-141.
1997
|
|
| 1997
|
Role of melanocortlnergic neurons in feeding and the agouti obesity syndrome.
Nature.
385:165-168.
1997
|
|
| 1997
|
Induction of neuropeptide Y gene expression in the dorsal medial hypothalamic nucleus in two models of the Agouti obesity syndrome
1997
|
|
| 1997
|
Structural organization of the human vitamin D receptor chromosomal gene and its promoter
1997
|
|
| 1996
|
Melanocortin antagonists define two distinct pathways of cardiovascular control by α- and γ-melanocyte-stimulating hormones
1996
|
|
| 1996
|
The melanocortin receptors: Agonists, antagonists, and the hormonal control of pigmentation
1996
|
|
| 1995
|
Cyclic Lactam α-Melanotropin Analogues of Ac-Nle4-cyclo[Asp5, D-Phe7, Lys10] α-Melanocyte-Stimulating Hormone-(4-10)-NH2 with Bulky Aromatic Amino Acids at Position 7 Show High Antagonist Potency and Selectivity at Specific Melanocortin Receptors.
Journal of Medicinal Chemistry.
38:3454-3461.
1995
|
|
| 1995
|
Identification of a novel murine receptor for corticotropin-releasing hormone expressed in the heart
1995
|
|
| 1993
|
Recombinant creatine kinase proteins and proposed standards for creatine kinase isoenzyme and subform assays
1993
|
|
| 1993
|
The human osteocalcin promoter directs bone-specific vitamin D-regulatable gene expression in transgenic mice
1993
|
|
| 1988
|
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.
Science.
242:1702-1705.
1988
|
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