scholarly journals Germ Line Mutations Associated Leukemia

2019 ◽  
Keyword(s):  
Germ Line ◽  
Germ Line Mutations

Pannexin channels and their links to human disease

2014 ◽  
Vol 461 (3) ◽  
pp. 371-381 ◽  
Author(s):  
Silvia Penuela ◽  
Luke Harland ◽  
Jamie Simek ◽  
Dale W. Laird
Keyword(s):  
Infectious Diseases ◽  
Human Disease ◽  
Potential Role ◽  
Germ Line ◽  
Disease Onset ◽  
The Other ◽  
Present Review ◽  
Germ Line Mutations ◽  
Genes Encoding ◽  
Intracellular Compartments

In less than a decade, a small family of channel-forming glycoproteins, named pannexins, have captured the interest of many biologists, in large part due to their association with common diseases, ranging from cancers to neuropathies to infectious diseases. Although the pannexin family consists of only three members (Panx1, Panx2 and Panx3), one or more of these pannexins are expressed in virtually every mammalian organ, implicating their potential role in a diverse array of pathophysiologies. Panx1 is the most extensively studied, but features of this pannexin must be cautiously extrapolated to the other pannexins, as for example we now know that Panx2, unlike Panx1, exhibits unique properties such as a tendency to be retained within intracellular compartments. In the present review, we assess the biochemical and channel features of pannexins focusing on the literature which links these unique molecules to over a dozen diseases and syndromes. Although no germ-line mutations in genes encoding pannexins have been linked to any diseases, many cases have shown that high pannexin expression is associated with disease onset and/or progression. Disease may also occur, however, when pannexins are underexpressed, highlighting that pannexin expression must be exquisitely regulated. Finally, we discuss some of the most pressing questions and controversies in the pannexin field as the community seeks to uncover the full biological relevance of pannexins in healthy organs and during disease.

Evidence for a pathogenic role of BRCA1 L1705P and W1837X germ-line mutations

2016 ◽  
Vol 43 (5) ◽  
pp. 335-338 ◽  
Author(s):  
Anna P. Sokolenko ◽  
Nikita M. Volkov ◽  
Elena V. Preobrazhenskaya ◽  
Evgeny N. Suspitsin ◽  
Aigul R. Garifullina ◽  
...  
Keyword(s):  
Germ Line ◽  
Pathogenic Role ◽  
Germ Line Mutations

scholarly journals Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region

2000 ◽  
Vol 166 (1) ◽  
pp. 1-9 ◽  
Author(s):  
W Karges ◽  
K Jostarndt ◽  
S Maier ◽  
A Flemming ◽  
M Weitz ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Germ Line ◽  
Single Strand Conformational Polymorphism ◽  
Coding Sequence ◽  
Men1 Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Germ Line Mutations

Germ line mutations of the multiple endocrine neoplasia type 1 (MEN1) tumour suppressor gene cause MEN1, a rare familial tumour syndrome associated with parathyroid hyperplasia, adenoma and hyperparathyroidism (HP). Here we investigated the role of the MEN1 gene in isolated sporadic and familial HP. Using RT-PCR single-strand conformational polymorphism screening, somatic (but not germ line) mutations of the MEN1 coding sequence were identified in 6 of 31 (19.3%) adenomas from patients with sporadic primary HP, but none in patients (n=16) with secondary HP due to chronic renal failure. MEN1 mutations were accompanied by a loss of heterozygosity (LOH) for the MEN1 locus on chromosome 11q13 in the adenomas as detected by microsatellite analysis. No DNA sequence divergence within the 5' region of the MEN1 gene, containing the putative MEN1 promoter, was detectable in HP adenomas. Clinical characteristics were not different in HP patients with or without MEN1 mutation. Heterozygous MEN1 gene polymorphisms were identified in 9.6% and 25% of patients with primary and secondary HP respectively. In a large kindred with familial isolated familial HP, MEN1 germ line mutation 249 del4 and LOH was associated with the HP phenotype and a predisposition to non-endocrine malignancies. We suggest that the bi-allelic somatic loss of MEN1 wild-type gene expression is involved in the pathogenesis of a clinically yet undefined subset of sporadic primary HP adenomas. MEN1 genotyping may further help define the familial hyperparathyroidism-MEN1 disease complex, but it seems dispensable in sporadic primary HP.

Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

2005 ◽  
Vol 16 (3) ◽  
pp. 702-706 ◽  
Author(s):  
Josep M. Sabaté ◽  
Antonio Gómez ◽  
Sofía Torrubia ◽  
Carme Blancas ◽  
Gloria Sánchez ◽  
...  
Keyword(s):  
Germ Line ◽  
Cowden Syndrome ◽  
Clinicopathological Study ◽  
Germ Line Mutations

scholarly journals Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic

2004 ◽  
Vol 183 (2) ◽  
pp. 257-265 ◽  
Author(s):  
Š Jindřichová ◽  
J Včelák ◽  
P Vlček ◽  
M Neradilová ◽  
J Němec ◽  
...  
Keyword(s):  
Czech Republic ◽  
Genetic Testing ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Germ Line ◽  
Molecular Genetic ◽  
The Czech Republic ◽  
Medullary Thyroid ◽  
Germ Line Mutations ◽  
Exon 11

Medullary thyroid carcinoma (MTC) occurs as a sporadic form (75%) or as an autosomal dominant inherited familial disorder (25%) called familial MTC (FMTC) or as multiple endocrine neoplasia type 2 (MEN2) syndromes. Germ-line mutations in the rearranged during transfection (RET) proto-oncogene in exons 10, 11, 13, 14, 15 and 16 are known to be a cause of most of the familial forms. In this paper we report molecular genetic testing of 106 families with MTC (358 tested persons) from the Czech Republic in which we directly sequenced these six exons of the RET proto-oncogene. We detected germ-line mutations in 100% of MEN2B families (4/4 families), 90% of MEN2A families (9/10), 40% of FMTC families (4/10) and 7% of apparently sporadic MTC (6/82). Eleven different germ-line mutations were revealed. MEN2B was associated with mutation Met918 Thr in exon 16. In one MEN2B family beside this mutation the Tyr791 Phe was also found, which has not yet been reported. MEN2A was restricted to different mutations in exon 11 (codon 634). In FMTC and ‘sporadic’ MTC families the mutations in exons 10, 11, 13 and 14 were detected. The genotype/phenotype correlations are given. Genetic testing revealed germ-line mutations in 23 index patients, 24 family members and excluded them in 53 relatives.

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

2007 ◽  
Vol 112 (2) ◽  
pp. 343-349 ◽  
Author(s):  
Ian J. Seymour ◽  
Silvia Casadei ◽  
Valentina Zampiga ◽  
Simonetta Rosato ◽  
Rita Danesi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Germ Line ◽  
Central Italy ◽  
Population Based ◽  
North Central ◽  
Germ Line Mutations
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