Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

p57Kip2, one of the cyclin-dependent kinase (CDK) inhibitors, has been suggested to be a tumor suppressor candidate. To elucidate its biological roles in mouse development and tumorigenesis, we created p57Kip2-deficient mice. The p57Kip2-deficient mice exhibited a cleft palate and defective bone formation resulting in severe dyspnea. Most of the p57Kip2-deficient mice died within 24 h after birth, while about 10% of them survived beyond the weaning period. All of the surviving mice showed severe growth retardation. The males showed immaturity of the testes, prostate and seminal vesicles, and the females showed vaginal atresia, immaturity of the uterus, and an increased number of atretic follicles. Although Yan et al. and Zhang et al. have already reported p57Kip2-deficient mice, they could not investigate the phenotypes of the surviving p57Kip2-deficient mice. Also, most of the symptoms of Beckwith-Wiedemann syndrome could not be reproduced in the mutant mice. Embryonic fibroblasts prepared from p57Kip2-deficient mice showed no differences in the proliferation rate and saturation density, suggesting that G1 arrest is largely independent of p57Kip2 function. Our results suggest that p57Kip2 plays a critical role in development, but do not support the hypothesis that the p57Kip2 gene is a tumor-suppressor gene or is responsible for Beckwith-Wiedemann syndrome.
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PMID:Mice lacking a CDK inhibitor, p57Kip2, exhibit skeletal abnormalities and growth retardation. 1073 69

The authors report a case of a 2-month-old girl diagnosed with Beckwith-Wiedemann syndrome (BWS) who was born prematurely and died suddenly in the hospital just before being discharged. BWS is a malformation syndrome associated with an increased risk of childhood tumors. The major features of BWS are macroglossia, abdominal wall defects, and visceromegaly, frequently leading to premature birth. Due to complex inheritance patterns, a predominance of nonfamilial cases, and the variability in expression of the features (termed incomplete penetrance), the risk of delayed diagnosis is evident. Secondary to hyperplastic pancreatic islands, hypoglycemia occurs frequently, and if not anticipated, adequate measures for prevention of hypoglycemic episodes may be delayed, resulting in possible intellectual deficits. The infant presented here died of natural causes: immaturity of the lungs resulting in marginal respiratory function and compounded by increased risk for asphyxia secondary to the enlarged tongue. The clinical history and findings in this infant are discussed in respect to the genetic syndrome with their relevance to medicolegal examination and the causes and manner of death.
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PMID:Sudden death in an 8-week-old infant with Beckwith-Wiedemann syndrome. 1099 Feb 93