134 results on '"Lines, Kate E."'
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2. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
3. GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics
4. Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor 1/X (NFIX): implications for skeletal dysplasia syndromes
5. Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes
6. Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
7. Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
8. Two Synchronous Pituitary Adenomas Causing Cushing Disease and Acromegaly
9. OR16-03 Epigenetic Studies Of Pancreatic Neuroendocrine Tumours (PNETs) Reveal Decreased DNA Hydroxymethylation In Non-functioning PNETs But Not Insulinomas
10. Functional roles of a novel protein, S100PBP in pancreatic adenocarcinoma
11. The role of DNA methylation in human pancreatic neuroendocrine tumours
12. A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome
13. A mouse model with a frameshift mutation in the nuclear factor I/X (NFIX) gene has phenotypic features of Marshall-Smith Syndrome
14. Preclinical Models of Neuroendocrine Neoplasia
15. miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2
16. Abstract 851: Functional dissection of GNAQ and GNA11 oncogenic mutations identifies potential targeted therapy
17. Corrigendum to ‘Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes’ [Surgery 171 (2021) 77–87]
18. The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
19. S100P-Binding Protein, S100PBP, Mediates Adhesion through Regulation of Cathepsin Z in Pancreatic Cancer Cells
20. Pasireotide Therapy of Multiple Endocrine Neoplasia Type 1–Associated Neuroendocrine Tumors in Female Mice Deleted for an Men1 Allele Improves Survival and Reduces Tumor Progression
21. miR-135b- and miR-146b-dependent silencing of calcium-sensing receptor expression in colorectal tumors
22. The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines
23. Molecular genetic advances in pituitary tumor development
24. PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1
25. Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
26. Multiple Endocrine Neoplasia Type 1: Latest Insights
27. Genetics of hereditary forms of primary hyperparathyroidism
28. Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
29. Multiple Endocrine Neoplasia Type 1: Latest Insights
30. Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant
31. Preclinical drug studies in MEN1-related neuroendocrine neoplasms (MEN1-NENs)
32. Genetic background influences tumour development in heterozygous Men1 knockout mice
33. Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly
34. OR07-06 The Roles of GNAQ and GNA11 in Calcium-Sensing Receptor (CaSR) Signalling
35. Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2
36. Evaluation of somatostatin analogue-JQ1 conjugates for the treatment of pancreatic neuroendocrine tumours
37. JQ1 treatment significantly reduces POMC expression and ACTH secretion from the corticotrophinoma cell line, AtT20
38. Epigenetic dysregulation in pituitary tumors
39. Association of prolactin receptor (PRLR) variants with prolactinomas
40. Whole genome sequence analysis establishes correct diagnosis for a syndromic form of hyperuricaemia
41. Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing
42. Epigenetic inhibitor treatment reduces proliferation via induction of apoptosis in a human typical bronchial carcinoid cell line
43. Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders
44. An epigenetic modifier reduces proliferation in pituitary cells and suppresses calcium-sensing receptor signalling
45. Multiple Endocrine Neoplasia Type 1: Latest Insights.
46. Somatic mutations of GNA11and GNAQin CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
47. Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
48. Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
49. GNAQ/GNA11Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics
50. Molecular Genetic Studies of Pancreatic Neuroendocrine Tumors
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