EVIDENCE FOR THE INHERITANCE OF A BLUE VARIANT OF THE AUSTRALIAN FRESH-WATER CRAYFISH CHERAX DESTRUCTOR (DECAPODA: PARASTACIDAE) AS AN AUTOSOMAL RECESSIVE

2000 ◽  
Vol 20 (1) ◽  
pp. 25-30 ◽  
Author(s):  
M. L. Walker ◽  
C. M. Austin ◽  
M. Meewan
Keyword(s):  
Fresh Water ◽  
Autosomal Recessive ◽  
Cherax Destructor

Sodium balance in the Australian crayfish Cherax destructor, Euastacus keirensis and E. spinifer (Decapoda : Parastacoidea)

1982 ◽  
Vol 33 (3) ◽  
pp. 507 ◽  
Author(s):  
P Greenaway ◽  
B Lawson
Keyword(s):  
Fresh Water ◽  
Northern Hemisphere ◽  
High Rate ◽  
Sodium Balance ◽  
Sodium Ions ◽  
Sodium Pumps ◽  
Ion Concentrations ◽  
Cherax Destructor

Sodium balance was examined in C. destructor. E. spinifer and E. keirensis to assess the degree of adaptation to fresh water and to permit comparisons with the better known astacoid crayfish of the Northern Hemisphere. The crayfishes had blood ion concentrations close to those reported in the Astacoidea and permeability to sodium ions was similarly low. The affinities of the sodium pumps for sodium ions were relatively low but this was compensated for by an unusually high rate of uptake of sodium following depletion, which enabled sodium balance to be maintained at low external concentrations. Adaptation to fresh water in the species examined is less advanced than in the astacoid species studied.

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

Sign in / Sign up

Export Citation Format

Share Document