Disease: Adenosine triphosphatase deficiency
- <em>Atp6v1h</em> Deficiency Blocks Bone Loss in Simulated Microgravity Mice through the <em>Fos-Jun-Src-Integrin</em> Pathway
- A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant
- A Comprehensive Study of Heterogeneous Mismatch Repair Expression in Solid Tumors Reveals Different Immunohistochemical Patterns and Distinct Genetic Mechanisms
- A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells
- A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish
- A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency
- Adolescent-onset multisystem proteinopathy due to a novel VCP variant
- All That Is Small Is Not a Small-Cell Carcinoma: Thoracic SMARCA4-Deficient Undifferentiated Tumors Masquerading as SCLC
- An aggressive case of a thoracic undifferentiated SMARCA4-deficient tumor with extensive pleural involvement
- Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients
- Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families
- Atp6v1h Deficiency Blocks Bone Loss in Simulated Microgravity Mice through the Fos-Jun-Src-Integrin Pathway
- AXL/WRNIP1 Mediates Replication Stress Response and Promotes Therapy Resistance and Metachronous Metastasis in HER2+ Breast Cancer
- BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly
- BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution
- BLM helicase unwinds lagging strand substrates to assemble the ALT telomere damage response
- Boron deficiency energizes cyanide uptake and assimilation through activating plasma membrane H(+)-ATPase in rice plants
- Cardiac-specific deletion of heat shock protein 60 induces mitochondrial stress and disrupts heart development in mice
- Cervical lymphoepithelioma-like carcinoma with deficient mismatch repair and loss of SMARCA4/BRG1: a case report and five related cases
- Chromatin regulator SMARCAL1 modulates cellular lipid metabolism
- Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
- Clinical characteristics and prognosis analysis of 17 cases of SMARCA4-deficient chest tumors
- Clinicopathological features of SMARCA4-deficient lung adenocarcinoma: a study of 42 cases
- CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex
- CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation
- Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism
- Cytopathological characteristics of SMARCA4-deficient thoracic undifferentiated tumors in serous effusion
- Deficiencies in cluster-2 ALA lipid flippases result in salicylic acid-dependent growth reductions
- Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
- Detection and Significance of Molecular Markers in Immunotherapy and Targeted Therapy of Colorectal Cancer in Tibet
- Divergent Roles of Escherichia Coli Encoded Lon Protease in Imparting Resistance to Uncouplers of Oxidative Phosphorylation: Roles of marA, rob, soxS and acrB
- Effect of sulfate on the osmoregulatory and physio-biochemical responses of GIFT (Oreochromis niloticus) juveniles reared in potassium-deficient medium saline waters
- Efficacy of immune checkpoint inhibitors in SMARCA4-deficient and TP53 mutant undifferentiated lung cancer
- Electrolytes
- Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques
- Evaluation of Efficacy and Prognosis Analysis of Stage III-IV SMARCA4-deficient Non-small Cell Lung Cancer Treated by PD-1 Immune Checkpoint Inhibitors plus Chemotherapy and Chemotherapy
- Evaluation of Efficacy and Prognosis Analysis of Stage III-IV SMARCA4-deficient Non-small Cell Lung Cancer Treated by PD-1 Immune Checkpoint Inhibitors plus Chemotherapy and Chemotherapy
- FANCJ promotes PARP1 activity during DNA replication that is essential in BRCA1 deficient cells
- FBH1 deficiency sensitizes cells to WEE1 inhibition by promoting mitotic catastrophe
- Fluctuating light induces a significant photoinhibition of photosystem I in maize
- Fructose aggravates copper-deficiency-induced cardiac remodeling by inhibiting SERCA2a
- Functional Inhibition of Katanin Affects Synaptic Plasticity
- Gastrointestinal tumors with SWI/SNF complex deficiency: a clinicopathological analysis of 36 cases
- Genetic heterogeneity within a consanguineous family involving <em>TTPA</em> and <em>SETX</em> genes
- Gliding motility proteins GldJ and SprB contribute to <em>Flavobacterium columnare</em> virulence
- Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis
- H+-slip correlated to rotor free-wheeling as cause of F<sub>1</sub>F<sub>O</sub>-ATPase dysfunction in primary mitochondrial disorders
- Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase
- Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
- Immune infiltration, aggressive pathology, and poor survival outcomes in RECQL helicase deficient breast cancers
- Intestinal Atp8b1 dysfunction causes hepatic choline deficiency and steatohepatitis
- Intracellular K+ Limits T-cell Exhaustion and Preserves Antitumor Function
- Keratinocyte FABP5-VCP complex mediates recruitment of neutrophils in psoriasis
- Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia
- Lysine Distinctively Manipulates Myogenic Regulatory Factors and Wnt/Ca<sup>2+</sup> Pathway in Slow and Fast Muscles, and Their Satellite Cells of Postnatal Piglets
- Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient
- Mismatch repair protein deficiency and its implications on distant metastasis in colorectal cancer: A comprehensive analysis
- Mismatch repair protein MLH1 suppresses replicative stress in BRCA2-deficient breast tumors
- Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations
- Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation
- Molecular and Pathologic Characterization of YAP1-Expressing Small Cell Lung Cancer Cell Lines Leads to Reclassification as SMARCA4-Deficient Malignancies
- Myocardin reverses insulin resistance and ameliorates cardiomyopathy by increasing IRS-1 expression in a murine model of lipodystrophy caused by adipose deficiency of vacuolar H(+)-ATPase V0d1 subunit
- NEAT1 Deficiency Promotes Corneal Epithelial Wound Healing by Activating cAMP Signaling Pathway
- New Insights into Lynch Syndrome: A Narrative Review
- Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma
- PEBP4 deficiency aggravates LPS-induced acute lung injury and alveolar fluid clearance impairment via modulating PI3K/AKT signaling pathway
- Preparation of an injectable and photocurable carboxymethyl cellulose/hydroxyapatite composite and its application in cranial regeneration
- Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: A rare case report and literature review
- Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer
- Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report
- Regulation of condensin II by self-suppression and release mechanisms
- RNA helicase EIF4A1-mediated translation is essential for the GC response
- Schrödinger's yeast: the challenge of using transformation to compare fitness among <em>Saccharomyces cerevisiae</em> that differ in ploidy or zygosity
- SP-R210 isoforms of Myosin18A modulate endosomal sorting and recognition of influenza A virus infection in macrophages
- Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery
- Surviving without BRCA2: MLH1 gets R-looped in to curtail genomic instability
- SWI/SNF chromatin remodeling complex in pancreatic ductal adenocarcinoma: Clinicopathologic and immunohistochemical study
- SWI/SNF-deficient tumors of the central nervous system: An update
- Synthetic lethality: targeting SMARCA2 ATPase in SMARCA4-deficient tumors - a review of patent literature from 2019-30 June 2023
- Targeting DDX11 promotes PARP inhibitor sensitivity in hepatocellular carcinoma by attenuating BRCA2-RAD51 mediated homologous recombination
- TFIIH central activity in nucleotide excision repair to prevent disease
- The arbuscular mycorrhizal fungus Rhizophagus irregularis uses the copper exporting ATPase RiCRD1 as a major strategy for copper detoxification
- The Development of <em>Aspergillus flavus</em> and Biosynthesis of Aflatoxin B1 are Regulated by the Golgi-Localized Mn<sup>2+</sup> Transporter Pmr1
- The function of Bazhen decoction in rescuing progeroid cell senescence via facilitating G-quadruplex resolving and telomere elongation
- The mitochondrial ATP synthase is a negative regulator of the mitochondrial permeability transition pore
- The PKA-CREB1 axis regulates coronavirus proliferation by viral helicase nsp13 association
- The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity
- Thoracic SMARCA4-deficient tumors: a clinicopathological analysis of 52 cases with SMARCA4-deficient non-small cell lung cancer and 20 cases with thoracic SMARCA4-deficient undifferentiated tumor
- Thoracic SMARCA4-deficient undifferentiated tumor: A clinicopathological and prognostic analysis of 35 cases and immunotherapy efficacy
- Thoracic SMARCA4-deficient undifferentiated tumor: current knowledge and future perspectives
- Thoracic SMARCA4-deficient undifferentiated tumors mimicking inflammatory lesions
- Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling
- Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport
- Treatment of Thoracic SMARCA4-Deficient Undifferentiated Tumors: Where We Are and Where We Will Go
- Uncoupling programmed DNA cleavage and repair scrambles the Paramecium somatic genome
- Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies
- Whole-Genome Sequencing Analysis of Male Breast Cancer Unveils Novel Structural Events and Potential Therapeutic Targets
- WRN Is a Promising Synthetic Lethal Target for Cancers with Microsatellite Instability (MSI)
- WRNIP1 prevents transcription-associated genomic instability
- ZBTB20 Regulates SERCA2a Activity and Myocardial Contractility Through Phospholamban