Results 31 to 40 of about 630 (120)

C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration [PDF]

Free Radical Biology and Medicine, 2022
Changjuan Shao, Xiaopin Ma, Sandra L Siedlak   +2 more
exaly   +2 more sources

Novel Variant in C19orf12 Gene Causing Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) – Case Report and a Brief Review of Indian Literature on MPAN [PDF]

Annals of Indian Academy of Neurology
Jayaram Saibaba, Sandeep Sibi, Deepak Amalnath, Dharanipragada Krishna Suri Subrahmanyam   +3 more
doaj   +2 more sources

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular Genetics & Genomic Medicine, 2021
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
doaj   +1 more source

 Sequencing datas for C19orf12 mutation in an Chinese patient

, 2023
 Sequencing datas for C19orf12 mutation in an Chinese ...
Yuan, Shiqin
core   +1 more source

Mitochondrial membrane protein–associated neurodegeneration: A case series of six children

Annals of Indian Academy of Neurology, 2020
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra.
Faruk Incecik, Ozlem M Herguner, Atil Bisgin   +2 more
doaj   +1 more source

Table1_Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration.docx

, 2022
Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene.
Yue Yang (52715), Jiuxiang Wang (12125238), Wenjie Hao (10650779), Shijie Zhang (119400), Taohua Wei (10650776), Ting Cheng (1692172), Wei Dong (6479), Nannan Qian (10650782), Wenming Yang (4017086)   +8 more
core   +1 more source

Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene

Stem Cell Research, 2020
Mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as one of the causative genes for neurodegeneration with brain iron accumulation (NBIA).
Han-Yi Lin, Chih-Hsin Ou-Yang, Chin-Hsien Lin   +2 more
doaj   +1 more source

Нейродегенеративне захворювання з накопиченням заліза в головному мозку дитини, хворої на гемофілію А, ускладнену інгібіторними антитілами

Сучасна педіатрія: Україна, 2022
Гемофілія А - це X-зчеплений рецесивний розлад, викликаний дефіцитом FVIII згортання плазми, може бути успадкованим або виникнути внаслідок спонтанної мутації.
O.I. Dorosh, Kh.I. Bodak, Ya.R. Kozak, L.Ya. Dubey, O.W. Dworniak, I.P. Tsymbalyuk-Voloshyn, M.I. Dushar   +6 more
doaj   +1 more source

Genome-wide analysis of copy number alterations led to the characterisation of PDCD10 as oncogene in ovarian cancer

Translational Oncology, 2021
Copy Number Alterations (CNAs) represent the most common genetic alterations identified in ovarian cancer cells, being responsible for the extensive genomic instability observed in this cancer.
Carmela De Marco, Pietro Zoppoli, Nicola Rinaldo, Sandro Morganella, Matteo Morello, Valeria Zuccalà, Maria Vincenza Carriero, Donatella Malanga, Roberta Chirillo, Paola Bruni, Carmine Malzoni, Dolores Di Vizio, Roberta Venturella, Fulvio Zullo, Antonia Rizzuto, Michele Ceccarelli, Gennaro Ciliberto, Giuseppe Viglietto   +17 more
doaj   +1 more source

Table1_Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration.XLSX

, 2022
Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene.
Yue Yang (52715), Jiuxiang Wang (12125238), Wenjie Hao (10650779), Shijie Zhang (119400), Taohua Wei (10650776), Ting Cheng (1692172), Wei Dong (6479), Nannan Qian (10650782), Wenming Yang (4017086)   +8 more
core   +1 more source