日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia

在高钙血症或低钙血症患者中发现的 GNA11 变异

Sarah A Howles, Caroline M Gorvin, Treena Cranston, Angela Rogers, Anna K Gluck, Hannah Boon, Kate Gibson, Mushtaqur Rahman, Allen Root, M Andrew Nesbit, Fadil M Hannan, Rajesh V Thakker

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)

母亲患有家族性低尿钙高钙血症 1 型 (FHH1) 的后代发生新生儿低钙血症性癫痫

Poonam Dharmaraj, Caroline M Gorvin, Astha Soni, Nick D Nelhans, Mie K Olesen, Hannah Boon, Treena Cranston, Rajesh V Thakker, Fadil M Hannan

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant

由于细胞周期分裂 73 (CDC73) 变异导致的多发性内分泌肿瘤 1 型 (MEN1) 表型模拟

Kate E Lines, Lisa B Nachtigall, Laura E Dichtel, Treena Cranston, Hannah Boon, Xun Zhang, Kreepa G Kooblall, Mark Stevenson, Rajesh V Thakker

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias

具有功能丧失和获得突变的钙敏感受体残基位于构象变化区域并导致信号偏差

Caroline M Gorvin, Morten Frost, Tomas Malinauskas, Treena Cranston, Hannah Boon, Christian Siebold, E Yvonne Jones, Fadil M Hannan, Rajesh V Thakker

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

蛋白亚基-α11 功能丧失突变 Thr54Met 导致家族性低尿钙高钙血症 2 型 (FHH2)

Caroline M Gorvin, Treena Cranston, Fadil M Hannan, Nigel Rust, Asjid Qureshi, M Andrew Nesbit, Rajesh V Thakker

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

嗜铬细胞瘤/副神经节瘤与垂体腺瘤关联的异质性遗传背景:来自大量患者的结果

Judit Dénes, Francesca Swords, Eleanor Rattenberry, Karen Stals, Martina Owens, Treena Cranston, Paraskevi Xekouki, Linda Moran, Ajith Kumar, Christopher Wassif, Naomi Fersht, Stephanie E Baldeweg, Damian Morris, Stafford Lightman, Amar Agha, Aled Rees, Joan Grieve, Michael Powell, Cesar Luiz Bogusz

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

导致家族性低尿钙性高钙血症 3 型 (FHH3) 的衔接蛋白 2 sigma 亚基突变表现出基因型-表型相关性、密码子偏向性和显性负效应

Fadil M Hannan, Sarah A Howles, Angela Rogers, Treena Cranston, Caroline M Gorvin, Valerie N Babinsky, Anita A Reed, Clare E Thakker, Detlef Bockenhauer, Rosalind S Brown, John M Connell, Jacqueline Cook, Ken Darzy, Sarah Ehtisham, Una Graham, Tony Hulse, Steven J Hunter, Louise Izatt, Dhavendra Kum

CDC73 intragenic deletion in familial primary hyperparathyroidism associated with parathyroid carcinoma

与甲状旁腺癌相关的家族性原发性甲状旁腺功能亢进症中的 CDC73 基因内缺失

Eeva Korpi-Hyövälti, Treena Cranston, Eeva Ryhänen, Johanna Arola, Kristiina Aittomäki, Timo Sane, Rajesh V Thakker, Camilla Schalin-Jäntti