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Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-10
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... ). The genetic alterations are most often hereditary, giving rise to familial disease that can involve only PPGL formation, but usually is associated with other disorders. Some are nonhereditary disorders that cause syndromic manifestations. At least 20 genes have been implicated in familial disorders...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-07
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... HEREDITARY SYNDROMES ASSOCIATED WITH ADRENAL CORTICAL PROLIFERATIONS Syndrome Gene(s) Adrenal Cortical Phenotype Relative Risk of Adrenal Cortical Cancer Main Other Associated Features Beckwith-Wiedemann syndrome a IGF2 locus Cysts, adenoma (carcinoma in case reports...
Images
Published: 01 December 2024
ABDOMINAL PARAGANGLIOMA Figure 9-13 ABDOMINAL PARAGANGLIOMA A: The tumor, from a patient with a hereditary mutation of the SDHB gene (same specimen as in fig. 9-11 ), has mixed nested and trabecular architecture and is composed of monomorphic cells with slightly eosinophilic cytoplasm More about this image found in ABDOMINAL PARAGANGLIOMA A: The tumor, from a patient with a hereditary mut...
Images
Published: 01 December 2024
of genes encoding subunits of succinate dehydrogenase (SDH), this tumor was SDH intact. B: Strong diffuse expression of synaptophysin is present throughout this incidental mesenteric paraganglioma. C: Expression of chromogranin A is lost or greatly reduced in patchy areas, with some cells showing only More about this image found in MESENTERIC PARAGANGLIOMA A: This paraganglioma composed of basophilic and ...
Images
in Physiology, Development, and Anatomy of the Adrenal Glands
> Tumors of the Adrenal Glands and Extra-Adrenal Paraganglia
Published: 01 December 2024
-HSD type 3) is expressed in the testis but not in the adrenal glands, which therefore have minimal ability to convert the weak androgens DHEA and androstenedione into testosterone. “17β-HSD” encompasses a large family of isoenzymes encoded by separate genes and differentially expressed in a wide More about this image found in MAJOR BIOSYNTHETIC PATHWAYS FOR STEROIDOGENESIS Both adrenal gland and gon...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-06
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... areas from a central component with an altered reticulin pattern (D), and high degree of atypia with necrosis (E) and atypical mitotic figures (inset). Molecular data favor a multistep progression from normal adrenal cortex to adenoma and subsequently to carcinoma. Some of the gene mutations...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-05
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... to the identification of recurrent somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and ATPases (ATP1A1 and ATP2B3). These genes are essential for regulating intracellular ion homeostasis and cell membrane potential. All these mutations promote increased...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-09
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... biologically by distinctive characteristics of extra-adrenal versus adrenal tumors. These characteristics include usual inability to synthesize epinephrine and proclivity to occur in patients with hereditary mutations of genes encoding subunits of succinate dehydrogenase ( 33 ); they may reflect the different...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-04
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... chondroma, and extra-adrenal paraganglioma ( 4 ). A genetic cause is assumed since the tumors are multicentric and multifocal, and usually affect young patients, although the causative gene(s) remains elusive and the syndrome does not appear to be hereditary. Epigenetic hypermethylation of the SDHC...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-08
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... with mutations of RET, NF1, and related genes involved in kinase signaling (TMEM127, MAX, KIF1Bβ) comprise “cluster 2.” This is associated with both adrenergic and nor-adrenergic secretion, resulting in elevations of metanephrine and normetanephrine. “Cluster 3” disease is attributed to somatic...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-03
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... in the generalized glucocorticoid resistance syndrome caused by mutations in the glucocorticoid receptor gene NR3C1 ( 6 ). Patients with this syndrome do not have features of Cushing syndrome, but the lack of negative feedback of cortisol on the hypothalamic-pituitary-adrenal axis results in increased...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-11
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... cancer-related mortality, according to Surveillance, Epidemiology, and End Result (SEER) data ( 22 ). Familial cases exist in NBL but are rare (1 to 2 percent of cases) ( 23 ). There are two genes that predispose for familial NBL: anaplastic lymphoma kinase (ALK), in which germline gain...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-02
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
... and a cytomegalic form ( 5 ). AHC can occur as an X-linked form due to DAX1 mutation, and is associated with a number of single gene disorders and various chromosomal abnormalities. Bilateral adrenal agenesis is a rare condition that is incompatible with postnatal life without hormone replacement ( 6...
Images
Published: 01 September 2024
PHASES OF HHV8 INFECTION, WITH ASSOCIATED GENE EXPRESSION Figure 8-15 PHASES OF HHV8 INFECTION, WITH ASSOCIATED GENE EXPRESSION More about this image found in PHASES OF HHV8 INFECTION, WITH ASSOCIATED GENE EXPRESSION
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-01
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
...-hydroxy-steroid dehydrogenase (17β-HSD type 3) is expressed in the testis but not in the adrenal glands, which therefore have minimal ability to convert the weak androgens DHEA and androstenedione into testosterone. “17β-HSD” encompasses a large family of isoenzymes encoded by separate genes...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 21
Published: 01 December 2024
10.55418/9781933477473-12
ISBN-10: 1-933477-47-4
ISBN: 978-1-933477-47-3
...) for the detection of chromosome translocations involving the TFE3 gene at Xp11.2 may serve as ancillary techniques ( 46 , 47 ). An additional diagnostic pitfall is that malignant epithelioid PEComas can closely resemble sarcomatoid adrenal cortical carcinoma, which can also stain for Melan-A/MART-1 in some...
Images
Published: 01 September 2024
MOLECULAR TARGETS USED IN THE DIAGNOSIS OF FUNGAL INFECTIONS Figure 21-12 MOLECULAR TARGETS USED IN THE DIAGNOSIS OF FUNGAL INFECTIONS Ribosomal genes (marked with shaded arrows) are used. More about this image found in MOLECULAR TARGETS USED IN THE DIAGNOSIS OF FUNGAL INFECTIONS Ribosomal gen...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 20
Published: 01 September 2024
10.55418/9781933477435-02
ISBN-10: 1-933477-43-1
ISBN: 978-1-933477-43-5
... Genetic CJD Depends on the PRPN gene mutation All have dementia, with the following additional features: E200K—vertical gaze palsy, ataxia, and peripheral neuropathy (clustered cases) V180I—parkinsonism, akinetic mutism, and myoclonus M232R—dystonia, akinetic mutism, and myoclonus...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 20
Published: 01 September 2024
10.55418/9781933477435-15
ISBN-10: 1-933477-43-1
ISBN: 978-1-933477-43-5
... Table 15-5 GENES ASSOCIATED WITH INCREASED RISK FOR M. LEPRAE DISEASE Genetic Susceptibility Associated Genes Susceptibility to infection NRAMP1 (natural resistance-associated macrophage protein) genes Genes in the NOD2-mediated signaling pathway ARK2/PACRG (parkin co-regulated...
Book Chapter
Series: Atlases of Tumor and Non-Tumor Pathology, Series 5
Volume: 20
Published: 01 September 2024
10.55418/9781933477435-21
ISBN-10: 1-933477-43-1
ISBN: 978-1-933477-43-5
... endospores when compared to R. seeberi. (Courtesy of M. Robledo, Universidad of Antioquia, Medellín, Columbia) MOLECULAR TARGETS USED IN THE DIAGNOSIS OF FUNGAL INFECTIONS Figure 21-12 MOLECULAR TARGETS USED IN THE DIAGNOSIS OF FUNGAL INFECTIONS Ribosomal genes (marked with shaded arrows...
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