Spontaneous mutation inMitf gene causes osteopetrosis in silver homozygote quail
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چکیده
منابع مشابه
A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis
BACKGROUND Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is S...
متن کاملAn SNX10 mutation causes malignant osteopetrosis of infancy.
BACKGROUND Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone marrow failure. In ∼70% of the patients there is a molecularly defined failure to maintain an acid p...
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Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
متن کاملCanonical Notch activation in osteocytes causes osteopetrosis.
Activation of Notch1 in cells of the osteoblastic lineage inhibits osteoblast differentiation/function and causes osteopenia, whereas its activation in osteocytes causes a distinct osteopetrotic phenotype. To explore mechanisms responsible, we established the contributions of canonical Notch signaling (Rbpjκ dependent) to osteocyte function. Transgenics expressing Cre recombinase under the cont...
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Patien ts w ith familial male-limited precocious puberty present with early onset of puberty. Several missense m utations in the LH receptor gene th a t cause amino acid substitu tions in the sixth tran s membrane segment of the receptor pi'otein have been shown to be a cause of the disorder. We have identified a novel LH receptor gene m utation in a patien t w ith familial male-limited precoc...
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ژورنال
عنوان ژورنال: Developmental Dynamics
سال: 2001
ISSN: 1058-8388,1097-0177
DOI: 10.1002/1097-0177(2000)9999:9999<::aid-dvdy1095>3.0.co;2-7