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1.
Clin Genet ; 92(2): 221-223, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28111752

ABSTRACT

Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.


Subject(s)
Genetic Predisposition to Disease , Intellectual Disability/genetics , Seizures/genetics , Vesicular Transport Proteins/genetics , Child , Child, Preschool , Female , Genetic Association Studies , Humans , Infant , Intellectual Disability/physiopathology , Male , Mutation, Missense/genetics , Seizures/physiopathology , Exome Sequencing
2.
Bioessays ; 7(3): 130-2, 1987 Sep.
Article in English | MEDLINE | ID: mdl-3689357

Subject(s)
Genes , Morphogenesis , Animals
3.
J Exp Zool ; 225(2): 175-85, 1983 Feb.
Article in English | MEDLINE | ID: mdl-6300281

ABSTRACT

The effect of short-term denervation (0, 12, 24, and 72 hours) on the levels of cyclic 3'5'-guanosine monophosphate (cGMP) and cyclic 3'5'-adenosine monophosphate (cAMP) in adult newt (Notophthalmus viridescens) forelimbs at 15, 22, and 35 days of regeneration was investigated. Regenerate blastema and stump cyclic nucleotide levels were compared with those of the contralateral intact forelimb and hindlimb, with levels in the normally regenerating blastema, and with levels measured in the forelimbs of intact, nonoperated animals. Variations in cyclic nucleotide levels occurred according to regeneration stage and tissue type. Changes in level were noted immediately upon denervation and subsequently at other sample times in all regenerate and control series. Parallel fluctuations occurred in regenerate stump and contralateral intact forelimbs. Our results from nonamputated denervated and sham-denervated animals indicate that short-term, denervation-associated cyclic nucleotide fluctuations cannot be attributed solely to the loss of innervation.


Subject(s)
Cyclic AMP/metabolism , Cyclic GMP/metabolism , Denervation , Extremities/physiology , Regeneration , Animals , Extremities/innervation , Notophthalmus viridescens , Time Factors
4.
J Exp Zool ; 200(1): 169-75, 1977 Apr.
Article in English | MEDLINE | ID: mdl-192831

ABSTRACT

Cyclic 3', 5'-guanosine monophosphate (cGMP) was measured at eight stages of forelimb regeneration in adult newts and compared with the cGMP levels of non-regenerating control limbs. There was a significant increase in cGMP content during dedifferentiation followed by a sharp decrease to minimal levels at the cone stage. A second smaller increase in cGMP occurred between the cone stage and mid-differentiation, followed by a decrease to relatively constant levels approaching control values as differentiation progressed. The changes in cGMP during dedifferentiation and during the period of highest cell proliferation indicate that cGMP may play a role in these processes. The smaller increases in cGMP levels during differentiation may reflect a reduced rate of cell division in the differentiating tissues.


Subject(s)
Cyclic GMP/metabolism , Extremities/physiology , Regeneration , Salamandridae/physiology , Urodela/physiology , Animals , DNA/metabolism , Salamandridae/metabolism , Time Factors
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