نتایج جستجو برای: anophthalmos
تعداد نتایج: 207 فیلتر نتایج به سال:
Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three ...
Bilateral anophthalmia was discovered in a male rat (No. 1) and unilateral anophthalmia was found in the left eye of two female rats (Nos. 2 and 3) derived from a Fischer 344 inbred colony. One male rat (No. 4), a littermate of No. 3, had externally normal eyes, but his left eye had severe retinal atrophy, which was detected by ophthalmoscopy. The eyelids in both eyes of No. 1 and in the left e...
This study explores the roles that regional partners play in helping to support implementation of the GLOBE program, an international earth science and education initiative. Researchers at SRI International conducted case studies of two GLOBE partners’ practices in an effort to identify the factors that contribute to effective implementation of the program within a teaching approach that emphas...
Orbital cartilage encircles the eye giving strength and support to the neural retina. It is derived from cranial neural crest cells (NCCs), cells that can generate a number of cell types including neurons, glia, and melanocytes. Uniquely in the head, NCCs also make skeletal derivatives that form the majority of the craniofacial skeleton. Differentiation of NCCs into cartilage requires inductive...
Haploinsufficiency for the HMG-box transcription factor SOX2 results in abnormalities of the human ventral forebrain and its derivative structures. These defects include anophthalmia (absence of eye), microphthalmia (small eye) and hypothalamic hamartoma (HH), an overgrowth of the ventral hypothalamus. To determine how Sox2 deficiency affects the morphogenesis of the ventral diencephalon and ey...
The SLC39A (solute carrier 39A) [ZIP (Zrt-Irt-like protein)] family consists of 14 members which are thought to control zinc uptake into the cytoplasm. Among these, ZIP4 is known to be particularly important for zinc homoeostasis. Mutations in this gene cause acrodermatitis enteropathica, a rare recessive-lethal human genetic disorder. In the present paper, our studies of the regulation and fun...
Microphthalmia, anophthalmia, and coloboma (MAC) are structural congenital eye malformations that cause a significant proportion of childhood visual impairments. Several disease genes have been identified but do not account for all MAC cases, suggesting that additional risk loci exist. We used single nucleotide polymorphism (SNP) homozygosity mapping (HM) and targeted next-generation sequencing...
Pregnant rats were injected intraperitoneally with a teratogenic dose of trypan blue (14 mg/100 g or 20 mg/100 g body weight) on the eighth day of gestation. Fetal blood was collected from control and experimental fetuses on the twentieth day of pregnancy. Serum was obtained from pooled blood samples of two to three fetuses. Paper electrophoresis was carried out in a Spinco model R system using...
The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in SOX2 have previously been associated with bilateral anophthalmia/microphthalmia, developmental delay, short stature, and male genital tract abnormalities. Here we investigated the role of Sox2 in murine pituitary developmen...
Definition: A complication of monozygotic twin pregnancies in which one fetus develops normally (pump twin) and the second twin (recipient twin) demonstrates cardiac mal development ranging from complete absence of heart tissue to some formation of rudimentary myocardia. Etiology: Probable reversal of circulation in the anomalous twin resulting from anastomosis of circulation between the twins ...
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