Results 151 to 160 of about 83,578 (286)

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.

, 1990
Hideaki Nakajima, Norio Kôno, T Yamasaki, Kikuko Hotta, Masanori Kawachi, M Kuwajima, Takuya Noguchi, T Tanaka, S Tarui   +8 more
openalex   +1 more source

Pathological exon skipping in an HNPCC proband withMLH1 splice acceptor site mutation [PDF]

, 2000
Luka A. Clarke, Isabel Veiga, Glória Isidro, Peter Jordan, Jos� Silva Ramos, Sérgio Castedo, Maria Guida Boavida   +6 more
openalex   +1 more source

A Super‐Enhancer‐Driven Transcriptional Regulatory Circuit Underlying Abiraterone Resistance in Castration‐Resistant Prostate Cancer

Advanced Science, EarlyView.
This study identifies a super‐enhancer‐driven transcriptional regulatory circuit comprising BCL6, SMAD3, and NFIB that cooperate to drive cholesterol synthesis via SREBF2/HMGCR/FDFT1 activation and regulate CDK2/CCND3 for cell cycle control. Targeting this circuit with BI‐3802 or downstream inhibitors (Fatostatin/Lovastatin) overcomes abiraterone ...
Liling Jiang, Jiamin Wang, Guanjie Peng, Haichuan Zhang, Jinxin Fang, Yingyin Gao, Enzhe Lou, Yangzhou Liu, Wa Ding, Bingyuan Liu, Qiong Mao, Lizhen Jiang, Aochu Liu, Xinyue Li, Shiwen Hu, Qiaomin Ma, Yueyuan Zheng, Zhigang Zhao, Xianping Shi   +18 more
wiley   +1 more source

Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations

Acta Dermato Venereologica, 2014
Kiritsi, Dimitra, Huilaja, Laura, Franzke, Claus-Werner, Kokkonen, Nina, Pazzagli, Chiara, Schwieger-Briel, Agnes, Larmas, M., Bruckner-Tuderman, Leena, Has, Cristina, Tasanen, Kaisa   +9 more
openaire   +4 more sources

MALMPS: A Machine Learning‐Based Metabolic Gene Prognostic Signature for Stratifying Clinical Outcomes and Molecular Heterogeneity in Stage II/III Colorectal Cancer

Advanced Science, EarlyView.
Chen et al. identified a metabolic gene prognostic signature with machine‐learning framework and assessed the prognostic value in independent CRC cohorts. The metabolic signature subtypes are characterized by specific metabolic and proteomic characteristics, and associated with distinct molecular pathway and therapeutic potential.
Hao Chen, Ze Wang, Chenglong Sun, Yang Zhong, Yuan Liu, Yikun Li, Tongchao Zhang, Yuan Zhang, Xingyu Zhu, Leping Li, Feifei Teng, Ming Lu, Wei Chong   +12 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report

Journal of Medical Case Reports
Background This article presents a case study of two white male siblings of 24 and 31 years of age of self-reported Ukrainian ethnicity diagnosed with adrenomyeloneuropathy (AMN) associated with a novel splice site mutation in the ABCD1 gene.
Khrystyna Shchubelka, Olga Herasymenko, Andrii Budzyn, Oleksandr Lysytsia, Anastasiia Rusyn, Olga Oleksyk, Svitlana Tynta, Taras Oleksyk   +7 more
doaj   +1 more source

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia. [PDF]

Iran Biomed J, 2021
Jamali E, Khalesi R, Bitarafan F, Almadani N, Garshasbi M.   +4 more
europepmc   +1 more source

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

, 1998
F. P. M. Cremers
openalex   +1 more source

A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript [PDF]

, 2000
Anna Thongnoppakhun, Nanyawan Rungroj, Prapon Wilairat, Kriengsak Vareesangthip, C Sirinavin, Pa‐thai Yenchitsomanus   +5 more
openalex   +1 more source