نتایج جستجو برای: ofd1
تعداد نتایج: 97 فیلتر نتایج به سال:
Defects in centrosome and cilium function are associated with phenotypically related syndromes called ciliopathies. Cby1, the mammalian orthologue of the Drosophila Chibby protein, localizes to mature centrioles, is important for ciliogenesis in multiciliated airway epithelia in mice, and antagonizes canonical Wnt signaling via direct regulation of β-catenin. We report that deletion of the mous...
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma
OBJECTIVE Hypothalamic hamartoma (HH) is a congenital anomalous brain tumor. Although most HHs are found without any other systemic features, HH is observed in syndromic disorders such as Pallister-Hall syndrome (PHS) and oral-facial-digital syndrome (OFD). Here, we explore the possible involvement of somatic mutations in HH. METHODS We analyzed paired blood and hamartoma samples from 18 indi...
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
BACKGROUND Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis of X-linked markers. METHODOLOGY/PRINCIPAL FINDINGS We added new functionalities in the ...
Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis of oral-facia...
The oral-facial-digital type I syndrome (OFDI; MIM 311200) is a rare syndromic form of inherited renal cystic disease. It is transmitted as an X-linked dominant, male lethal disorder and is caused by mutations in the OFD1 gene. Previous studies demonstrated that OFDI belongs to the growing number of disorders ascribed to dysfunction of primary cilia. We generated a conditional inactivation of t...
Wwtr1 is a widely expressed 14-3-3-binding protein that regulates the activity of several transcription factors involved in development and disease. To elucidate the physiological role of Wwtr1, we generated Wwtr1-/- mice by homologous recombination. Surprisingly, although Wwtr1 is known to regulate the activity of Cbfa1, a transcription factor important for bone development, Wwtr1-/- mice show...
oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. furthermore, central nervous system (cns) abnormalities can also be part of this developmental disorder. at least 13 forms of ofds based on their pattern of signs and symptoms have been identified so far. type 1 which is now considered to be a...
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