Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2161580
Abstract: BACKGROUND To present the retinal and systemic findings in two siblings with compound heterozygous MPDZ variants that were found to have different chorioretinal manifestations. Materials and Methods: Two sibling patients underwent comprehensive ophthalmic examination, including… read more here.
Keywords: recessive mpdz; mpdz variants; retinal manifestations; manifestations autosomal ... See more keywords
P13.09 Genomic analysis of paired IDHwt glioblastoma (GB) reveals recurrent alterations of MPDZ at relapse after radiotherapy and temozolomide (RTCT)
Sign Up to like & getrecommendations! Published in 2019 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noz126.230
Abstract: GB are highly aggressive tumors which systematically relapse. Our objective was to identify disease progression mechanisms and genomic drivers of GB treatment resistance. Ten paired frozen tumors from initial and recurrent surgery after RTCT were… read more here.
Keywords: rtct; initial recurrent; recurrent tumors; relapse ... See more keywords
Loss of Mpdz impairs ependymal cell integrity leading to perinatal‐onset hydrocephalus in mice
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DOI: 10.15252/emmm.201606430
Abstract: Hydrocephalus is a common congenital anomaly. LCAM1 and MPDZ (MUPP1) are the only known human gene loci associated with non‐syndromic hydrocephalus. To investigate functions of the tight junction‐associated protein Mpdz, we generated mouse models. Global… read more here.
Keywords: loss mpdz; integrity; mpdz; cell ... See more keywords