Search results for "chromogranin"

Boy with pseudohypoparathyroidism type 1a caused byGNASgene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding

2009

We report on a 6-month-old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. Because of progressive hydrocephaly, the synostosis was corrected surgically but circulatory decompensation led to disseminated intravascular coagulation and cerebral infarctions. Our patient died 8 days later. Postmortem molecular studies of GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (ge…

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones

2011

Background Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia in association with an increased secretion of parathyroid hormone (PTH) due to decreased target tissue responsiveness to PTH. Patients with PHP type Ia are not only resistant to PTH, but also to other hormones that bind to receptors coupled to stimulatory G protein (Gsalpha). PHP Ia and Albright hereditary osteodystrophy (AHO) are caused by a reduced activity of the Gsalpha protein. Heterozygous inactivating Gs alpha (GNAS) gene mutations have been identified in these patients. Methods We studied a boy with PHP Ia. During follow-up the patient developed elevated liver enzyme serum levels and abd…

Regional specificities in the distribution, chemical phenotypes, and coexistence patterns of neuropeptide containing nerve fibres in the human anal c…

1993

Despite the pivotal clinical significance of the human anal canal, little is known about its total and specific innervation. This study assessed the comparative distribution and histotopology of nerve fibres immunoreactive for neural markers and a variety of regulatory active neuropeptides in the human anal canal by light microscopic immunohistochemistry. Depending on the epithelial zone and region of the anal canal, the neural elements were differentially immunoreactive for the pan-neural marker protein gene product 9.5, the catecholamine marker tyrosine hydroxylase, the neuroendocrine marker chromogranin A, and various neuropeptides. Protein gene product 9.5-immunoreactive nerve fibres we…

Extraskeletal myxoid chondrosarcoma of the masticator space in a pediatric patient

2017

Extraskeletal myxoid chondrosarcoma (EMC) is a malignant soft-tissue neoplasm rarely described in the head and neck region of children and adolescents. We describe a case of EMC affecting the masticator space and a literature review. A 13-year-old boy who presented a large painless, diffuse mass causing progressive midfacial asymmetry of 6 months duration. Histopathological evaluation revealed a multinodular lesion, containing scattered round vacuolated tumor cells dispersed in an abundant myxoid stroma, separated by fibrous septae. Immunohistochemical analysis revealed positivity for vimentin, neuron-specific enolase, and chromogranin. The Ki-67 labelling index was 42%. The patient was tre…

Distribution and coexistence of chromogranin A-, serotonin-and pancreastatin-like immunoreactivity in endocrine-like cells of the human anal canal

1992

The comparative distribution and coexistence of chromogranin A (CGA)-, serotonin (5-hydroxytryptamine; 5-HT)- and pancreastatin (PST)-like immunoreactivity in endocrine-like cells of the human anal canal was investigated by light-microscopic immunocytochemistry. The largest population of colorectal endocrine-like cells consisted of CGA-immunoreactive (ir) cells, followed by the 5-HT-ir and PST-ir cell population. In the anal transitional zone (ATZ), CGA- and 5-HT-immunoreactivity was equally distributed; ir-PST was confined to a smaller endocrine-like cell population. In the squamous zone and the perianal skin, Merkel cells in the basal layer of the epidermis and hair follicles exhibited ir…

Inhibitory influence of chromogranin A N-terminal fragment (vasostatin-1) on the spontaneous contractions of rat proximal colon

2005

Very little is known about the role played by CGA and its fragments in the gastrointestinal physiology. We have studied the role of CGA N-terminal fragments in the regulation of intestinal smooth muscle contractility by measuring the influence of recombinant CGA 1-78 (VS-1) and synthetic CGA 7-57 peptides on the spontaneous mechanical activity of rat proximal colon in vitro. The mechanical activity was recorded as changes in the intraluminal pressure. VS-1 (0.1-30 nM) and CGA 7-57 (10-300 nM) produced concentration-dependent inhibitory effects, characterized by a progressive decrease in the mean amplitude of circular muscle spontaneous contractions, without affecting the resting tone. The r…

THE CHROMOGRANIN A-DERIVED PEPTIDES: STRUCTURAL AND FUNCTIONAL FEATURES IN HEART BIOLOGY

2007

Immunohistochemical localization of the pro-peptide processing enzymes PC1/PC3 and PC2 in the human anal canal.

1997

Abstract HORsch, D., R. Day, N. G. Seidah, E. Weihe and M. K.-H. SchAFer. Immunohistochemical localization of the pro-peptide processing enzymes PC1/PC3 and PC2 in the human anal canal. Peptides 18(5) 755–760, 1997.—The distribution of prohormone/pro-peptide convertases PC1/PC3 and PC2 was investigated in the human anal canal by immunohistochemistry. Both prohormone convertases exhibited region-specific distribution patterns and were observed in neural and neuroendocrine cells and in nonneuroendocrine cellular elements. PC1/PC3 immunoreactivity was present in enteric neurons, subsets of nerve fibers, and neuroendocrine cells, and also in epithelial cells like intestinal stem cells, and a su…

Electron microscopic immunogold cytochemistry reveals chromogranin A confined to secretory granules of porcine Merkel cells

1990

By ultrastructural immunohistochemistry using the immunogold technique, immunoreactive (ir) Chromogranin A (CGA) was found to be confined to the secretory vesicles of porcine Merkel cells. CGA was present predominantly in the periphery of the electron-dense core and on the clear halo. These findings indicate that CGA is a regular constituent of Merkel cell secretory granules but probably not exclusively responsible for their electron opacity.

Chromogranin A in the Mammalian Merkel Cell: Cellular and Subcellular Distribution

1989

Chromogranin-A (CGA), which accounts for more than half the soluble matrix protein in secretory granules of various neuroendocrine cells, has a wide spectrum of potential biological roles and is considered an important marker of the diffuse neuroendocrine system (DNES). Light and electron microscopic immunohistochemistry of mammalian skin revealed that Merkel cells are exclusively CGA-immunoreactive (ir) and that the immunoreaction is localized in the secretory granules. This finding supports the classification of the Merkel cell as a member of the DNES. The CGA immunoreactivity was restricted to Merkel cells of pigs and humans. In human embryonic skin, CGA was expressed in Merkel cells as …