Zobrazeno 1 - 9
of 9
pro vyhledávání: '"May Christine Malicdan"'
Autor:
Christopher Song, Wendy Introne, Kevin O'Brien, Srikar Kuppa, Thomas Markello, William Gahl, May Christine Malicdan, Allan Alexander
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101040- (2024)
Externí odkaz:
https://doaj.org/article/321d3720d6654ee69c0906de291e5438
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101228- (2024)
Externí odkaz:
https://doaj.org/article/e8205e18805c492c814360db40c3b540
Autor:
David D'Onofrio, Andrea Cohen, Meredith Gillis, Seth Berger, May Christine Malicdan, William Gahl, David Adams, Camilo Toro, Thomas Cassini
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101759- (2024)
Externí odkaz:
https://doaj.org/article/e33979c54ce64487a607126636e7630d
Autor:
Jenny Serra-Vinardell, Maxwell B. Sandler, Evgenia Pak, Wei Zheng, Amalia Dutra, Wendy Introne, William A. Gahl, May Christine Malicdan
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101883- (2020)
Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, ble
Externí odkaz:
https://doaj.org/article/980d312ffa724a038d2f8fd8f3adc45d
Autor:
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 5 (2020)
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes. We addressed this by investigating a key pair of endocytic adaptor proteins, PH domain-cont
Externí odkaz:
https://doaj.org/article/5fdaaca4db97458da46d83a12c823db0
Publikováno v:
EBioMedicine, Vol 15, Iss C, Pp 193-202 (2017)
Congenital muscular dystrophies with collagen VI deficiency are inherited muscle disorders with a broad spectrum of clinical presentation and are caused by mutations in one of COL6A1–3 genes. Muscle pathology is characterized by fiber size variatio
Externí odkaz:
https://doaj.org/article/30f04914c83b467a90a0165348adfe10
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)
Ullrich congenital muscular dystrophy (UCMD) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6
Externí odkaz:
https://doaj.org/article/6c0b3101f00d49c48fcfb8cede368f62
Autor:
RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun
Publikováno v:
Am J Med Genet C Semin Med Genet
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a
Autor:
Marjan Huizing, Steven U. Walkley, Melissa Wasserstein, Christine Anne-Longin, Raymond Y. Wang, Richard Reimer, Laura Pollard, Liisa Paavola, May Christine Malicdan, Marya S. Sabir, Petcharat Leoyklang, David R. Adams, William A. Gahl
Publikováno v:
Molecular Genetics and Metabolism. 138:107160