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Human Molecular Genetics|March 2, 2010
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidismMichael R Bowl, Samantha M Mirczuk, Irina V Grigorieva, et al.
American Journal of Physiology. Renal Physiology|November 27, 2009
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's diseaseAnita A C Reed, Nellie Y Loh, Sara Terryn, et al.
Endocrine Connections|January 22, 2020
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidismKatie U Gaynor, Irina V Grigorieva, Samantha M Mirczuk, et al.
The Journal of Clinical Investigation|September 17, 2005
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)Ann M Kennedy, Masaki Inada, Stephen M Krane, et al.
Nature Genetics|December 11, 2012
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3M Andrew Nesbit, Fadil M Hannan, Sarah A Howles, et al.
Experimental Eye Research|October 27, 2018
A novel role for CRIM1 in the corneal response to UV and pterygium developmentEleonora Maurizi, Davide Schiroli, Sarah D Atkinson, et al.
JCI Insight|February 15, 2017
G<b>α</b><sub>11</sub> mutation in mice causes hypocalcemia rectifiable by calcilytic therapyCaroline M Gorvin, Fadil M Hannan, Sarah A Howles, et al.
Endocrinology|December 5, 2013
An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excessLiz Bentley, Christopher T Esapa, M Andrew Nesbit, et al.
JBMR Plus|October 5, 2018
An <i>N</i>-Ethyl-<i>N</i>-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral FusionChristopher T Esapa, Sian E Piret, M Andrew Nesbit, et al.
The Journal of Clinical Investigation|May 21, 2010
Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2Irina V Grigorieva, Samantha Mirczuk, Katherine U Gaynor, et al.
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