×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
CLINGEN
Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice.
10545995
1999
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Basal Cell Nevus Syndrome
1.000
Biomarker
CLINGEN
Ptch1 -deficient (Ptch1 +/-) mice and patients with nevoid basal cell carcinoma syndrome showed high bone mass in adults.
18477452
2008
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
10887115
2000
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
In this study, we investigated the effects of two naturally occurring mutations in the GPIbbeta gene, C122S and 443delG, on the expression of the GPIb/IX complex identified in a variant type of BSS in which the platelets had severely reduced GPIbalpha ( approximately 10%) and less markedly reduced GPIbbeta and GPIX ( approximately 20%) expression.
16978236
2006
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
9116284
1997
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
We report a family with Bernard-Soulier syndrome with a homozygous mutation within the GPIb(beta ) gene.
12945881
2003
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.
16409472
2006
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
15213102
2004
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
We report here a novel nonsense mutation of the GPIbbeta gene associated with BSS .
12447957
2002
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Shear-induced platelet aggregation can be mediated by vWF released from platelets, as well as by exogenous large or unusually large vWF multimers, requires adenosine diphosphate, and is resistant to aspirin.
3258770
1988
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.
12693941
2003
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Glycoprotein (GP) Ib beta is the critical subunit linking GP Ib alpha and GP IX in the GP Ib-IX complex. Analysis of partial complexes.
8089142
1994
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.
27148783
2016
×
Entrez Id:
2812
Gene Symbol:
GP1BB
GP1BB
Bernard-Soulier Syndrome
1.000
Biomarker
CLINGEN
Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
12958615
2003
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
1.000
Biomarker
CLINGEN
In 102 of the 125 persons in whom at least one BLM mutation was identified, the mutation was recurrent, that is, it was shared by two or more persons with BS ; 19 of the 64 different mutations were recurrent.
17407155
2007
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
1.000
Biomarker
CLINGEN
Cancer predisposition caused by elevated mitotic recombination in Bloom mice.
11101838
2000
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
1.000
Biomarker
CLINGEN
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
10678659
2000
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
1.000
Biomarker
CLINGEN
The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM .
7585968
1995
×
Entrez Id:
641
Gene Symbol:
BLM
BLM
Bloom Syndrome
1.000
Biomarker
CLINGEN
Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase.
12242442
2002
×
Entrez Id:
2158
Gene Symbol:
F9
F9
Hemophilia B
1.000
Biomarker
CLINGEN
Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.
26612714
2016
×
Entrez Id:
2158
Gene Symbol:
F9
F9
Hemophilia B
1.000
Biomarker
CLINGEN
The molecular basis of blood coagulation.
3286010
1988
×
Entrez Id:
2158
Gene Symbol:
F9
F9
Hemophilia B
1.000
Biomarker
CLINGEN
The putative factor IX gene promoter in hemophilia B Leyden .
3416069
1988
×
Entrez Id:
2158
Gene Symbol:
F9
F9
Hemophilia B
1.000
Biomarker
CLINGEN
The X-linked genetic bleeding disorder caused by deficiency of coagulator factor IX , hemophilia B , is a disease ideally suited for gene therapy with genome editing technology.
26964564
2016
×
Entrez Id:
2158
Gene Symbol:
F9
F9
Hemophilia B
1.000
Biomarker
CLINGEN
Hence, a murine model of factor IX (F. IX ) deficiency was generated to develop gene therapy strategies for hemophilia B .
9639513
1998
×
Entrez Id:
2158
Gene Symbol:
F9
F9
Hemophilia B
1.000
Biomarker
CLINGEN
Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B .
16643212
2006