William F. Simonds

William F. Simonds

Molecular Pathophysiology Branch, National Institute Of Diabetes And Digestive And Kidney Diseases, National Institutes Of Health, Bethesda, Maryland 20892.

Direct Impact

Concepts for which William F Simonds has direct influence:

endocrine neoplasia
parathyroid cancer
adenylyl cyclase
beta gamma
nuclear localization
preoperative localizing
nhe3 activity

External impact

Concepts related to the work of other authors for which William F Simonds has influence:

endocrine neoplasia
primary hyperparathyroidism
night blindness
biallelic mutations
parathyroid carcinoma
carney complex
diagnostic criteria

Prominent publications by William F. Simonds

KOL-Index: 125 Hereditary origin of a tumor helps toward early discovery of its mutated gene; for example, it supports the compilation of a DNA panel from index cases to identify that gene by finding mutations in it. The gene for a hereditary tumor may contribute also to common tumors. For some syndromes, such as hereditary paraganglioma, several genes can cause a similar syndrome. For other syndromes, ...
Known for
Polyclonal Hormonal Excess | Syndrome Syndromes | Pathways Hormone | Clonal Gene
KOL-Index: 86 Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. ...
Known for
Hyperparathyroidism-Jaw Tumor | Hpt-Jt | Medullary Thyroid Cancer | 2-5
KOL-Index: 73 GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six families. We observed an association between the nature of the variants and clinical severity; individuals with ...
Known for
Rate Hypotonia | Mutations Gnb5
KOL-Index: 72
Known for
Autosomal-Recessive Multisystem Syndrome
KOL-Index: 43 Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in MEN1, no mutation in CDKN1B (p27) and no RET mutation, but had both RET polymorphisms ...
Known for
Germline Men1 Mutation | Typical Men1 Features | Single Molecular Pathway | Men2-Like Phenotype
KOL-Index: 43 Regulation of the serum calcium level in humans is achieved by the endocrine action of parathyroid glands working in concert with vitamin D and a set of critical target cells and tissues including osteoblasts, osteoclasts, the renal tubules, and the small intestine. The parathyroid glands, small highly vascularized endocrine organs located behind the thyroid gland, secrete parathyroid ...
Known for
Sporadic Parathyroid | Manifestation Inherited | Mutations Tumor | Glands Small
KOL-Index: 41 We describe two cases of acquired parathyroid hormone (PTH) resistance consequent to the development of serum PTH type 1 receptor (PTH1R) autoantibodies, which block PTH binding and signaling. Both cases were associated with other autoimmune manifestations, and one case was associated with atypical membranous glomerulonephritis. In vitro binding and signaling assays identified the presence ...
Known for
Pth1r Autoantibodies | Hormone Pth | Signaling Autoimmune
KOL-Index: 37 Itch is a protective sensation producing a desire to scratch. Pathologic itch can be a chronic symptom of illnesses such as uremia, cholestatic liver disease, neuropathies and dermatitis, however current therapeutic options are limited. Many types of cell surface receptors, including those present on cells in the skin, on sensory neurons and on neurons in the spinal cord, have been ...
Known for
Role R7bp | Kappa Opioid | Signaling Regulation | Activity Therapeutic
KOL-Index: 33
KOL-Index: 32 BACKGROUND: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT. METHODS: A retrospective analysis of clinical and genetic features, parathyroid ...
Known for
7 Unrelated Hpt-Jt Families | Uncomplicated Bilateral Neck Exploration | Genetic Features | Optimal Operative Approach

Molecular Pathophysiology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.

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