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ASAH1 wt Allele

Known as: SMAPME, AC, FLJ21558 
Human ASAH1 wild-type allele is located in the vicinity 8p22 of and is approximately 29 kb in length. This allele, which encodes acid ceramidase… 
National Institutes of Health

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19p13.3ASAH1 geneCeramide Signaling Pathway PIDHydrolysis

Papers overview

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Highly Cited
2010
Highly Cited
2010
Ten-year results of a three-arm prospective cohort study on implants in periodontally compromised patients. Part 1: implant loss and radiographic bone loss.
OBJECTIVES The aim of this study was to compare the long-term outcomes of implants placed in patients treated for periodontitis… 
Review
2005
Review
2005
GNAS Locus and Pseudohypoparathyroidism
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone… 
Highly Cited
2005
Highly Cited
2005
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
A unique heterozygous 3-kb microdeletion within STX16, a closely linked gene centromeric of GNAS, was previously identified in… 
Highly Cited
2003
Highly Cited
2003
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone… 
Highly Cited
2002
Highly Cited
2002
Tau-Mediated Cytotoxicity in a Pseudohyperphosphorylation Model of Alzheimer's Disease
Aggregation and increased phosphorylation of tau at selected sites (“hyperphosphorylation”) are histopathological hallmarks of… 
Highly Cited
1998
Highly Cited
1998
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
The GNAS1 gene encodes the alpha subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide… 
Highly Cited
1998
Highly Cited
1998
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
The GNAS1 gene encodes the alpha subunit of the G protein Gs, which couples receptor binding by several hormones to activation of… 
Highly Cited
1998
Highly Cited
1998
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in… 
Highly Cited
1996
Highly Cited
1996
Values of Ultrasonography, Sestamibi Scintigraphy, and Intraoperative Measurement of 1-84 PTH for Unilateral Neck Exploration of Primary Hyperparathyroidism
Abstract. Unilateral neck exploration (UNE) is a controversial approach to the treatment of primary hyperparathyroidism (PHP… 
Highly Cited
1983
Highly Cited
1983
Studies on the metabolic mechanism of reduced high density lipoproteins during anabolic steroid therapy.
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