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    Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
    (Elsevier Masson s.r.l., 2022) Marais, Anett; Bertoli-Avella, Aida M.; Beetz, Christian; Altunoğlu, Umut; Alhashem, Amal; Mohamed, Sarar; Alghamdi, Abdulaziz; Willems, Patrick; Tsoutsou, Eirini; Fryssira, Helena; Pons, Roser; Almarzooq, Reem; Yüksel Karatoprak, Elif; Ayaz, Akif; Ünverengil, Gökçen; Calvo, Maria; Yüksel, Zafer; Bauer, Peter
    Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival.
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    LRIG2 mutations cause urofacial syndrome
    (2013) Stuart, Helen; Roberts, Neil; Burgu, Berk; Daly, Sarah; Urquhart, Jill; Bhaskar, Sanjeev; Dickerson, Jonathan; Mermerkaya, Murat; Silay, Mesrur Selcuk; Lewis, Malcolm; Orive Olondriz, Beatriz; Gener, Blanca; Beetz, Christian; Varga, Rita Eva; Gülpnar, Ömer; Süer, Evren; Soygür, Tarkan; Özçakar Birsin, Zeynep; Yalçnkaya, Fatoş; Kavaz, Aslı; Bulum, Burcu; Gücük, Adnan; Yue, Wyatt; Erdogan, Fırat; Berry, Andrew; Hanley, Neil; McKenzie, Edward; Hilton, Emma; Woolf, Adrian; Newman, William
    Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. LRIG2 and heparanase-2 were immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract.