Results 101 to 110 of about 247,558 (284)

Promoting Autophagy Mitigates Stress‐Induced Remodeling in Patient iPSC‐CMs with the Phospholamban R9C Mutation

Advanced Science, EarlyView.
The Phospholamban (PLN) R9C mutation reduces SERCA2a binding, increasing calcium recycling and baseline contractility. However, the excess of free PLN promotes pentamer formation, limiting phosphorylation and blunting β‐adrenergic signaling. Under cardiac stress, enhanced functional demands overwhelm proteostasis in PLN R9C cells, leading to misfolded ...
Qi Yu, Yawei Shen, Robert J. Barndt, Karim Sallam, Ying Tang, Cameron E. Brown, Xiao Li, Stephen Y. Chan, Joseph C. Wu, Qing Liu, Haodi Wu   +10 more
wiley   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Achermann, JC, Beck-Peccoz, P, Borretta, G, Jameson, JL, Mantovani, G, Ozisik, G, Persani, L, Romoli, R, Spada, A   +8 more
core  

Red Blood Cell‐Derived Exosomal miR‐93‐5p Promotes Lung Cancer Progression through PTEN Suppression

Advanced Science, EarlyView.
Red blood cell (RBC)‐derived exosomal miR‐93‐5p is elevated in lung cancer patients and correlates with poor outcomes. Exosomal miR‐93‐5p suppresses PTEN in cancer cells, enhancing proliferation, migration, and invasion. In mouse models, therapeutic inhibition with ASO‐miR‐93 5p reduces tumor growth, highlighting a bidirectional tumor‐RBC‐tumor axis ...
Ning Li, Pushpa Dhilipkannah, Van K Holden, Ashutosh Sachdeva, Feng Jiang   +4 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma

BMC Cancer, 2017
Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura, Mizuo Ando, Yasuhiro Ebihara, Yuki Saito, Kenya Kobayashi, Osamu Fukuoka, Ken Akashi, Masafumi Yoshida, Takahiro Asakage, Tatsuya Yamasoba   +9 more
doaj   +1 more source

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]

, 2017
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam, Barzegar, Mohammadreza, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol Mohammad, Mozafari, Nikoo, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +11 more
core   +1 more source

Bioinformatics Profiling Of Missense Mutations

, 2009
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire   +1 more source

Lipid Droplet‐Localized Spindle Apparatus Coiled‐Coil Protein 1 Regulates Lipid Droplet Distribution

Advanced Science, EarlyView.
SPDL1‐L, a long isoform of SPDL1, is identified as a bona fide lipid droplet‐associated protein that acts as a dynein adaptor to drive perinuclear clustering of lipid droplets. By linking lipid droplets to the microtubule network, SPDL1‐L extends the function of SPDL1 beyond mitosis and contributes to lipid droplet organization and nuclear remodeling ...
Honggang Su, Huimin Pan, Yaqiang Liu, Wei Wang, Yang Jiao, Yumo Hang, Xiahe Huang, Yong E. Zhang, Yuhang Chen, Mei Ding, Xun Huang   +10 more
wiley   +1 more source

MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

Pakistan Armed Forces Medical Journal, 2018
Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz, Nasrullah Khan, Agha Muhammad Raza, Nisar Ahmed, Jamil Ahmad   +4 more
doaj  

Modulating Purothionin Accumulation and Signal Peptide Cleavage Fine‐Tunes Wheat Flour Gluten Properties to Improve Cookie‐Making Quality

Advanced Science, EarlyView.
Dual genetic strategies for improving wheat processing quality by regulating purothionin accumulation to modulate gluten quantity and quality. The first strategy involves targeting signal peptide (SP) cleavage sites (e.g., through mutation) to indirectly reduce gluten content, thereby disrupting gluten network formation.
Yijie Liu, Siyuan Chang, Zhaoheng Zhang, Tianqi Kang, Mingde Liu, Yuan Zong, Fei Ni, Yinguang Bao, Ruijie Zhang, Xiaobang Zhang, Jinkun Du, Mingming Xin, Zhaorong Hu, Jie Liu, Zhongfu Ni, Qixin Sun, Yingyin Yao   +16 more
wiley   +1 more source