Levels of alpha-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects.

Adinolfí, Matteo; Beck, Susan E.; Embury, Susan; Polani, P. E.; Seller, Mary J.

doi:10.1136/jmg.13.6.511

Cited by 26 publications

(11 citation statements)

References 11 publications

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“…Experience with isosorbide is encouraging. Thiny-three patient were treated with isosorbide and the results are comparable with Lorber's experience (1). Lorber succes fully treated 10 of a total of 34 patient with isosorbide.…”

Section: Discussionsupporting

confidence: 62%

A Decade of "Primary" Hydrocephalus in the West of Scotland

Melville¹,

Endeley²,

Dg³

1981

Eur J Pediatr Surg

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110 patients presenting to the Royal Hospital for Sick Children, Glasgow and the Paediatric Unit at Stobhill Hospital, Glasgow in the decade 1971 to 1980 were studied retrospectively. All patients had progressive hydrocephalus but excluded from consideration were patients with neural tube defects such as myelomeningocele and encephalocele. The aetiology, clinical course and outcome have been studied. The mortality was 17.2% in the first year of life and the overall mortality was 28.2%.

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Section: Discussionsupporting

confidence: 62%

A Decade of "Primary" Hydrocephalus in the West of Scotland

Melville¹,

Endeley²,

Dg³

1981

Eur J Pediatr Surg

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“…Following Grüneberg’s study, the curly tail mice were not used until 1975, when breeding pairs were transferred to Mary Seller and Paul Polani at Guy’s Hospital, London. These workers recognized the value of curly tail as a mouse model for human NTD, a view stimulated by their discovery of increased alphafetoprotein (AFP) in the amniotic fluid of affected fetuses 1 . This finding was subsequently extended by Jensen et al 28 , who reported elevated AFP in maternal serum during curly tail pregnancy.…”

Section: Origin Of the Curly Tail Mousementioning

confidence: 99%

“…Over a 50 year period, a number of parallels have been drawn between NTD in the curly tail mutant mouse model and in the human situation. AFP level is elevated in both amniotic fluid 1 and maternal serum 28 , there is an association with polyhydramnios and hydrocephaly 19 , females predominate amongst fetuses with EX 14; 50 , and the existence of modifier genes points to multifactorial inheritance 31; 33 . Moreover, NTD in curly tail are resistant to folic acid 24; 41 , as in a proportion of human NTD, but can be prevented by myo -inositol 23 , suggesting a possible alternative therapy for human folate-resistant NTD.…”

Section: General Conclusion and Future Challengesmentioning

confidence: 99%

Curly tail: a 50-year history of the mouse spina bifida model

Straaten¹,

Copp²

2001

Anatomy and Embryology

109

118

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SummaryThis paper reviews 50 years of progress towards understanding the aetiology and pathogenesis of neural tube defects (NTD) in the curly tail (ct) mutant mouse. More than 45 papers have been published on various aspects of curly tail with the result that it is now the best understood mouse model of NTD pathogenesis. The failure of closure of the spinal neural tube, which leads to spina bifida in this mouse, has been traced back to a tissue-specific defect of cell proliferation in the tail bud of the E9.5 embryo. This cell proliferation defect results in a growth imbalance in the caudal region that generates ventral curvature of the body axis. Neurulation movements are opposed, leading to delayed neuropore closure and spina bifida, or tail defects. It is interesting to reflect that these advances have been achieved in the absence of information on the nature of the ct gene product, which remains unidentified. In addition to the principal ct gene, which maps to distal Chromosome 4, the curly tail phenotype is influenced by several modifier genes and by environmental factors. NTD in curly tail are resistant to folic acid, but can be prevented by myoinositol. These and other features of NTD in this system bear striking similarities to the situation in humans, making curly tail a model for understanding a sub-type of human NTD.

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“…Following those seminal observations, the relationship between inositol and NTDs was confirmed in curly tail mice a few years later [ 10 ]. The curly tail mutant mouse has been used since 1976 as an experimental model to study NTDs [ 11 ], as the homozygous mutant ct (ct−/ct−) mouse is associated with NTD phenotypes (spina bifida, curly tail, and exencephaly), although characterized by variable expression and incomplete penetrance.…”

Section: Inositol and Neural Tube Defects: Experimental Modelsmentioning

confidence: 99%

Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy

Cavalli

Ronda

2017

International Journal of Endocrinology

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The use of folic acid in the periconceptional period can prevent about 70% of neural tube defects (NTDs). In the remaining cases, no medical prevention is available, and those conditions should be defined as folate-resistant NTDs. Rodent models suggest that some folate-resistant NTDs can be prevented by inositol (myoinositol and chiroinositol) supplementation prior to pregnancy. Should folic acid be combined with myoinositol periconceptional supplementation to reduce the overall risk of NTDs even in humans? Hereafter, we discuss the results from the PONTI study that strongly support both the effectiveness and safety of myoinositol periconceptional supplementation in preventing human NTDs. We further report on the largest case series of pregnancies treated with myoinositol and folic acid. At our institution, a sequential study during 12 years involved mothers at risk of fetal NTDs, and 29 babies from 27 pregnancies were born after periconceptional combined myoinositol and folic acid supplementation. No case of NTDs was observed, despite the high recurrence risk in the mothers. Taken together, those data suggest that periconceptional folic acid plus myoinositol can reduce both the occurrence and recurrence risks of NTDs in a greater number of cases than folic acid alone.

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Levels of alpha-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects.

Cited by 26 publications

References 11 publications

A Decade of "Primary" Hydrocephalus in the West of Scotland

A Decade of "Primary" Hydrocephalus in the West of Scotland

Curly tail: a 50-year history of the mouse spina bifida model

Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy

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