PMID: 2486208Oct 1, 1989Paper

The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome

Journal of Medical Genetics
G A HitmanG J Snodgrass

Abstract

We have investigated 13 families, each of which have one member with infantile hypercalcaemia/Williams-Beuren syndrome (IHWBS), for either a germ cell mutation of, or an association with, the calcitonin-CGRP gene. Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg/II, PvuII, PstI, and SacI) and region specific probes failed to show any abnormalities of this gene complex. NO association of IHWBS with polymorphism of the calcitonin-CGRP/parathormone locus was found. Therefore, although the aetiology of IHWBS may be caused by a new dominant mutation, there is no evidence to implicate major rearrangements of the calcitonin-CGRP and parathormone genes.

References

Mar 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·L M KunkelJ M Rary
Mar 23, 1978·The New England Journal of Medicine·L T Ch'ienG S Ranu
Apr 22, 1985·FEBS Letters·P H SteenberghH S Jansz
Oct 1, 1986·Journal of Medical Genetics·J Burn
Nov 1, 1985·The Journal of Pediatrics·F L CullerL J Deftos
May 1, 1972·Acta paediatrica Scandinavica·G B ForbesJ C Reina
Nov 24, 1966·The New England Journal of Medicine·H E WiltseR E Cooke
Jan 1, 1984·Human Genetics·J W HöppenerC J Lips
Jul 1, 1984·Archives of Disease in Childhood·N D MartinR D Cohen
Dec 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·G N HendyA Rich
Apr 22, 1982·The New England Journal of Medicine·A B TaylorN H Bell
Jul 1, 1965·British Heart Journal·W F LOGANE J EPSTEIN

❮ Previous
Next ❯

Citations

Dec 1, 1992·The Journal of Pediatrics·K KruseK Wohlfahrt
Apr 1, 1991·American Journal of Medical Genetics·A F RussoJ C Murray
May 1, 1991·European Journal of Pediatrics·T VoitH G Lenard

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.