scholarly journals Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis

2014 ◽  
Vol 85 (1) ◽  
pp. 124-133 ◽  
Author(s):  
Moumita Barua ◽  
Eric Shieh ◽  
Johannes Schlondorff ◽  
Giulio Genovese ◽  
Bernard S. Kaplan ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
In Vitro Studies ◽  
Focal And Segmental Glomerulosclerosis ◽  
Segmental Glomerulosclerosis

scholarly journals Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

2018 ◽  
Vol 89 (3) ◽  
pp. 205-210 ◽  
Author(s):  
Ahlee Kim ◽  
Masanobu Fujimoto ◽  
Vivian Hwa ◽  
Philippe Backeljauw ◽  
Andrew Dauber
Keyword(s):  
Adrenal Insufficiency ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
In Vitro Studies ◽  
Recessive Mutation ◽  
Primary Adrenal Insufficiency ◽  
Whole Exome

Background/Aims: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Methods: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing. Results: The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelman syndrome. Whole-exome sequencing further revealed a novel homozygous intronic variant in CYP11A1, the gene encoding P450scc, found within the region of UPD. In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing. Conclusion: We report the first case of the combination of 2 rare genetic disorders, Angelman syndrome, and P450scc deficiency. After 20 years of diagnostic efforts, significant advances in genetic diagnostic technology allowed us to determine that these 2 disorders originate from a unified genetic etiology, segmental UPD unmasking a novel recessive mutation in CYP11A1.

LOCALISATION OF BAX, BCL‐2 AND FAS mRNA IN A MODEL OF FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A101-A101
Author(s):  
Wang W ◽  
Tzanidis A ◽  
Divjak M ◽  
Thomson Nm ◽  
Stein‐Oakley AN.
Keyword(s):  
Focal And Segmental Glomerulosclerosis ◽  
Segmental Glomerulosclerosis ◽  
Fas Mrna

LOCALISATION OF BAX, BCL‐2 AND FAS mRNA IN A MODEL OF FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A101-A101
Author(s):  
Wang W ◽  
Tzanidis A ◽  
Divjak M ◽  
Thomson Nm ◽  
Stein‐Oakley AN.
Keyword(s):  
Focal And Segmental Glomerulosclerosis ◽  
Segmental Glomerulosclerosis ◽  
Fas Mrna

In vitro - studies with antler bone cells: Structure forming capacity, osteocalcin production and influence of sex steroids

2006 ◽  
Vol 15 (04) ◽  
pp. 245-257 ◽  
Author(s):  
H. J. Rolf ◽  
K. G. Wiese ◽  
H. Siggelkow ◽  
H. Schliephake ◽  
G. A. Bubernik
Keyword(s):  
Sex Steroids ◽  
Bone Cells ◽  
In Vitro Studies ◽  
Osteocalcin Production

In Vitro Studies on the Mechanism of the Antifibrino-lytic Action of E-Aminocaproic Acid (EACA)

1968 ◽  
Vol 19 (03/04) ◽  
pp. 584-592 ◽  
Author(s):  
Hanna Lukasiewicz ◽  
S Niewiarowski
Keyword(s):  
Aminocaproic Acid ◽  
Test Tube ◽  
In Vitro Studies ◽  
Lytic Action ◽  
Human Plasminogen ◽  
Experimental Findings ◽  
Fibrin Clots

Summary and Conclusion1. It has been found that EACA does not inhibit activation of human plasminogen into plasmin by SK and UK in a concentration of 5 × 10–2 M. The activation of bovine plasminogen by SK and UK is inhibited by this concentration of EACA but not by a lower one.2. EACA in concentrations of 1,5 × 10–1 – 10–4 M does not inhibit casein proteolysis by plasmin. The proteolysis of fibrinogen and fibrin measured by the release of TCA soluble tyrosine is inhibited by EACA in concentrations of 1,5 × 10–1 – 10–2 M.3. The lysis of non-stabilized clots by plasmin measured in a test tube was inhibited by an EACA concentration of 5 × 10–3 – 5 × 10–4 M. The lysis of stabilized clots by plasmin was inhibited by an EACA concentration of 10–5 M.4. On the basis of experimental findings and data given in literature the authors postulate that the mechanism of the antifibrinolytic effects of EACA consists mainly in a modification of plasmin action on fibrin. These effects are dependent on the structure of the fibrin clots.

The Venom of the Boomslang (Dispholidus Typus): In Vivo and in Vitro Studies

1969 ◽  
Vol 21 (02) ◽  
pp. 234-244 ◽  
Author(s):  
N Mackay ◽  
J.C Ferguson ◽  
Antonia Bagshawe ◽  
A.T.T Forrester ◽  
G.P Mcnicol
Keyword(s):  
In Vitro Studies

SummaryAn account is given of the effects of boomslang venom in man. Evidence was found of a fibrinolytic state apparently secondary to the coagulant action of the venom. These features rapidly responded to the administration of specific antivenom. In vitro studies, using a homogenate of boomslang parotids, confirmed the coagulant properties of the venom and showed them to be of much greater potency than the proteolytic actions.

Sign in / Sign up

Export Citation Format

Share Document