scholarly journals VP16.13: Prenatal findings of a fetus with the autosomal recessive form of omodysplasia

2021 ◽  
Vol 58 (S1) ◽  
pp. 167-167
Author(s):  
I. Bueloni Ghiorzi ◽  
M. Santos Taiarol ◽  
E. Beck Fernandes ◽  
M. Rocha Besson ◽  
R. Silva Batisti ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Form ◽  
Recessive Form

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

Science ◽  
1994 ◽  
Vol 264 (5165) ◽  
pp. 1599-1601 ◽  
Author(s):  
A. Chan ◽  
T. Kadlecek ◽  
M. Elder ◽  
A. Filipovich ◽  
W. Kuo ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Autosomal Recessive Form ◽  
Recessive Form

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

2004 ◽  
Vol 9 (2) ◽  
pp. 122-123 ◽  
Author(s):  
ML Mostacciuolo ◽  
E Crestanello ◽  
F Boaretto ◽  
E Boscolo ◽  
M Liguori ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Hereditary Motor Neuropathy

Respiratory insufficiency in a severe autosomal recessive form of musclar dystrophy

1984 ◽  
Vol 4 (1) ◽  
pp. 45-48 ◽  
Author(s):  
Mustafa Abdalla M. Salih ◽  
Assadour Ekmejian ◽  
Mohamed Ibrahim A. Omer
Keyword(s):  
Respiratory Insufficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Form ◽  
Recessive Form

scholarly journals An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

2006 ◽  
Vol 140A (14) ◽  
pp. 1504-1510 ◽  
Author(s):  
Anna Rajab ◽  
Seung-Yun Yoo ◽  
Aiman Abdulgalil ◽  
Salem Kathiri ◽  
Riaz Ahmed ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Mental Retardation ◽  
Autosomal Recessive ◽  
Spastic Cerebral Palsy ◽  
Autosomal Recessive Form ◽  
Recessive Form

An autosomal recessive form of hemimelia in dogs

1982 ◽  
Vol 110 (6) ◽  
pp. 128-129 ◽  
Author(s):  
R. Alonso ◽  
A. Hernandez ◽  
P. Diaz ◽  
J. Cantu
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Form ◽  
Recessive Form

Another autosomal recessive form of focal glomerulosclerosis with neurological findings

2002 ◽  
Vol 17 (1) ◽  
pp. 16-19 ◽  
Author(s):  
H. Nakazato ◽  
S. Hattori ◽  
S. Karashima ◽  
T. Kawano ◽  
S. Seguchi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Focal Glomerulosclerosis ◽  
Autosomal Recessive Form ◽  
Neurological Findings ◽  
Recessive Form

AK2 Deficiency In Zebrafish Recapitulates Human Reticular Dysgenesis, An Autosomal Recessive Form Of Severe Combined Immunodeficiency

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 2416-2416
Author(s):  
Alberto Rissone ◽  
Jaya Jagadeesh ◽  
Karen Simon ◽  
Kevin Bishop ◽  
Raman B. Sood ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Conflicts Of Interest ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Zebrafish Model ◽  
Hematopoietic Stem ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Mutant Lines

Abstract The adenylate kinase (AK) gene family consists of 7 different members that contribute to energy cell metabolism by converting ATP+AMP to 2ADP. AKs are critical players in ensuring cellular energy homeostasis in all tissues. Mutations in the AK2 gene are responsible for reticular dysgenesis (RD), an autosomal recessive form of severe combined immunodeficiency (SCID). RD is characterized by an early differentiation arrest in the granulocyte lineage and impaired lymphoid maturation and it represents less than 2% of total SCID. Affected children succumb to overwhelming infections early in life unless their immune system is successfully restored with allogeneic hematopoietic stem cells transplant (HSCT). The mechanisms underlying the pathophysiology of RD remain unclear. The phenotype of AK2 deficient animals has never been reported in the literature, but murine lines carrying homozygous inactivating retroviral insertions are embryonically lethal (our personal observations). We used the zebrafish model to perform a comprehensive study of the effects of AK2 deficiency using Morpholino oligomers injections and two different kinds of AK2 mutants (a ENU-induced T371C/L124P missense mutant and two null mutant lines generated using zinc-finger nuclease technology). In situ hybridization analyses of AK2-deficient embryos indicated that only erythroid development was affected during primitive hematopoiesis. Conversely, during definitive hematopoiesis, the loss of function of AK2 resulted in abnormalities distributed along all hematopoietic lineages suggesting an impairment of hematopoietic stem cell (HSC) development. Moreover, we observed that the AK2 deficiency induced oxidative stress and consequent apoptosis in both primitive erythroid cells and definitive HSCs. Importantly, antioxidant treatment of AK2 mutant embryos rescued the hematopoietic phenotypes as indicated by the recovered expression of HSC and lymphoid markers (such as c-myb and rag1). Overall, our data indicate that zebrafish represents a good model for studying the molecular mechanisms involved in RD and testing of new therapeutic interventions. To date, our mutant lines remain the only animal model of this rare and lethal human disease. Disclosures: No relevant conflicts of interest to declare.

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