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Hypocalciuric hypercalcemia, familial, type 1

Known as: Familial benign hypercalcemia type 1, FBH1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal dominant inheritanceHypocalciuriaPancreatitis

Broader (2)

Familial benign hypercalcemiaHypercalcemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
The helicase FBH1 is tightly regulated by PCNA via CRL4(Cdt2)-mediated proteolysis in human cells
During replication, DNA damage can challenge replication fork progression and cell viability. Homologous Recombination (HR) and… 
Highly Cited
2013
Highly Cited
2013
FBH1 co-operates with MUS81 in inducing DNA double-strand breaks and cell death following replication stress
The molecular events occurring following the disruption of DNA replication forks are poorly characterized, despite extensive use… 
Highly Cited
2013
Highly Cited
2013
An SCF complex containing Fbxl12 mediates DNA damage-induced Ku80 ubiquitylation
The Ku heterodimer, composed of Ku70 and Ku80, is the initiating factor of the nonhomologous end joining (NHEJ) double-strand… 
2013
2013
FBH1 promotes DNA double-strand breakage and apoptosis in response to DNA replication stress
Enzymatic activity of the UvrD DNA helicase FBH1 is required for the efficient induction of DSBs and apoptosis specifically in… 
Highly Cited
2009
Highly Cited
2009
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.
The calcium sensing receptor (CaSR) is a Family C/3 G protein-coupled receptor that translates changes in extracellular Ca(2… 
Highly Cited
2009
Highly Cited
2009
Human Fbh1 helicase contributes to genome maintenance via pro- and anti-recombinase activities
Human Fbh1 helicase contributes to genome maintenance via pro- and anti-recombinase activities. 
Highly Cited
2009
Highly Cited
2009
Fbh1 Limits Rad51-Dependent Recombination at Blocked Replication Forks
ABSTRACT Controlling the loading of Rad51 onto DNA is important for governing when and how homologous recombination is used. Here… 
Highly Cited
2005
Highly Cited
2005
The F-Box DNA Helicase Fbh1 Prevents Rhp51-Dependent Recombination without Mediator Proteins
ABSTRACT A key step in homologous recombination is the loading of Rad51 onto single-stranded DNA to form a nucleoprotein filament… 
Highly Cited
2005
Highly Cited
2005
Role of the Schizosaccharomyces pombe F-Box DNA Helicase in Processing Recombination Intermediates
ABSTRACT In an effort to identify novel genes involved in recombination repair, we isolated fission yeast Schizosaccharomyces… 
Highly Cited
1998
Highly Cited
1998
Identification, Characterization, and In Situ Detection of a Fruit-Body-Specific Hydrophobin of Pleurotus ostreatus
ABSTRACT Hydrophobins are small (length, about 100 ± 25 amino acids), cysteine-rich, hydrophobic proteins that are present in… 
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