| Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion. | Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.
Odom J, Bacino CA, Karaviti LP, Bi W, Hoyos-Martinez A. | 01/12/2024 |
| Analysis of defects in GNAS and STX16 genes in a Chinese family with pseudohypoparathyroidism. | Analysis of defects in GNAS and STX16 genes in a Chinese family with pseudohypoparathyroidism.
Zhao P, Liu J, Cheng J, Li Q, Fu S, Wang Y, Yang X, Ma X. | 04/30/2022 |
| Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. | Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.
Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney RC, Tebben P, Jüppner H., Free PMC Article | 02/19/2022 |
| Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion. | Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
Kiuchi Z, Reyes M, Jüppner H., Free PMC Article | 09/18/2021 |
| we here present a patient with PHP1b caused by a recurrent STX16 deletion, presenting with macrosomia, early onset obesity, and macrocephaly without other AHO symptoms. we reemphasize STX16 deletions and PHP1b as a rare cause for early onset obesity and macrosomia. | Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
de Lange IM, Verrijn Stuart AA, van der Luijt RB, Ploos van Amstel HK, van Haelst MM. | 10/21/2017 |
| STX16 microdeletion was identified in male monozygotic twins (with pseudohypoparathyroidism type 1B leading to growth hormone deficiency) and mother/grandmother (not father/grandfather or sister [their triplet with separate placenta]). [CASE STUDY] | Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T. | 04/2/2016 |
| syntaxin 16 is a key regulator of cytokinesis. | Syntaxin 16 is a master recruitment factor for cytokinesis.
Neto H, Kaupisch A, Collins LL, Gould GW., Free PMC Article | 06/28/2014 |
| Data indicate that depletion of VAMP4, syntaxin 6, syntaxin 16, and Vti1a disrupted the Golgi ribbon structure. | VAMP4 is required to maintain the ribbon structure of the Golgi apparatus.
Shitara A, Shibui T, Okayama M, Arakawa T, Mizoguchi I, Sakakura Y, Takuma T., Free PMC Article | 02/8/2014 |
| A patient with familial pseudohypoparathyroidism type Ib and his asymptomatic brother were found to have methylation defect at GNAS (guanine nucleotide-binding protein G) and microdeletion involving exons 4-6 of neighboring gene STX16. [CASE REPORT] | Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.
Nagasaki K, Tsuchiya S, Saitoh A, Ogata T, Fukami M. | 08/31/2013 |
| De novo 3-kb STX16 deletions, reported only once previously, are infrequent but should be excluded in all cases of Pseudohypoparathyroidism-Ib, even when the family history is negative for an inherited form of this disorder. | De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.
Turan S, Ignatius J, Moilanen JS, Kuismin O, Stewart H, Mann NP, Linglart A, Bastepe M, Jüppner H., Free PMC Article | 02/16/2013 |
| Results suggest that STX16 mediates recycling of CFTR and constitutes an important component of CFTR trafficking machinery in intestinal epithelial cells. | Syntaxin 16 binds to cystic fibrosis transmembrane conductance regulator and regulates its membrane trafficking in epithelial cells.
Gee HY, Tang BL, Kim KH, Lee MG., Free PMC Article | 02/26/2011 |
| phosphorylation of RASSF1A by Aurora B is required for the recruitment of Syntaxin16 | Aurora B-mediated phosphorylation of RASSF1A maintains proper cytokinesis by recruiting Syntaxin16 to the midzone and midbody.
Song SJ, Kim SJ, Song MS, Lim DS. | 01/21/2010 |
| Syntaxin 16 may thus play a role in neurite outgrowth and perhaps other specific dendritic anterograde/retrograde traffic. | Syntaxin 16 is enriched in neuronal dendrites and may have a role in neurite outgrowth.
Chua CE, Tang BL. | 01/21/2010 |
| the region of overlap between the two microdeletions likely harbors a cis-acting imprinting control element that is necessary for establishing and methylation at GNAS exon A/B, thus allowing normal G alpha(s) expression in the proximal renal tubules. I | A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M., Free PMC Article | 01/21/2010 |
| function of syntaxin 16 was specifically required for, and restricted to, the retrograde pathway | Syntaxin 16 and syntaxin 5 are required for efficient retrograde transport of several exogenous and endogenous cargo proteins.
Amessou M, Fradagrada A, Falguières T, Lord JM, Smith DC, Roberts LM, Lamaze C, Johannes L., Free PMC Article | 01/21/2010 |