Disease: Adenosine triphosphatase deficiency
- <em>CHD7</em> Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction
- A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome
- Acute insomnia as the initial manifestation of Wilson' s disease: A Case Report
- Adherence to national Lynch syndrome testing guidelines for colorectal cancer in an Aotearoa New Zealand hospital-based population
- All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency
- Alternative translation initiation by ribosomal leaky scanning produces multiple isoforms of the Pif1 helicase
- AMPK Deficiency Increases DNA Methylation and Aggravates Colorectal Tumorigenesis in AOM/DSS Mice
- Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
- ATAD5 functions as a regulatory platform for Ub-PCNA deubiquitination
- ATM, BLM, and CDH1 gene co-mutations in a high-grade endometrial stromal sarcoma patient with multiple abdominal cavity metastases: a case report and literature review
- ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport
- BLM helicase unwinds lagging strand substrates to assemble the ALT telomere damage response
- Bloom syndrome DNA helicase mitigates mismatch repair-dependent apoptosis
- Calaxin is a key factor for calcium-dependent waveform control in zebrafish sperm
- Cardiac-specific deletion of heat shock protein 60 induces mitochondrial stress and disrupts heart development in mice
- CDCA7 is an evolutionarily conserved hemimethylated DNA sensor in eukaryotes
- Cell cycle-dependent centrosome clustering precedes proplatelet formation
- Cell-size-dependent regulation of Ezrin dictates epithelial resilience to stretch by countering myosin-II-mediated contractility
- Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
- Clinical characteristics and prognosis analysis of 17 cases of SMARCA4-deficient chest tumors
- Clinicopathological features and prognosis of sporadic mismatch repair deficient colorectal cancer
- Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation
- Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism
- Deafness causing neuroplastin missense variants fail to promote plasma membrane Ca<sup>2+</sup>-ATPase levels and Ca<sup>2+</sup> transient regulation in brain neurons
- Death receptors 4/5 mediate tumour sensitivity to natural killer cell-mediated cytotoxicity in mismatch repair deficient colorectal cancer
- Defective Lamtor5 Leads to Autoimmunity by Deregulating v-ATPase and Lysosomal Acidification
- Detection and Significance of Molecular Markers in Immunotherapy and Targeted Therapy of Colorectal Cancer in Tibet
- Dietary Cinnamaldehyde Activation of TRPA1 Antagonizes High-Salt-Induced Hypertension Through Restoring Renal Tubular Mitochondrial Dysfunction
- Distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility
- DNA mismatch repair defect and intratumor heterogeneous deficiency differently impact immune responses in diffuse large B-cell lymphoma
- DNA-PK participates in pre-rRNA biogenesis independent of DNA double-strand break repair
- Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair
- Endothelial Chromatin-Remodeling Enzymes Regulate the Production of Critical ECM Components During Murine Lung Development
- Epicardial SMARCA4 deletion exacerbates cardiac injury in myocardial infarction and is related to the inhibition of epicardial epithelial-mesenchymal transition
- Erk Inhibition as a Promising Therapeutic Strategy for High IL-8-Secreting and Low SPTAN1-Expressing Colorectal Cancer
- EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells
- Expression patterns of mismatch repair proteins in cervical cancer uncover independent prognostic value of MSH-2
- FANCM branchpoint translocase: Master of traverse, reverse and adverse DNA repair
- Functional analysis of MMR gene VUS from potential Lynch syndrome patients
- Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases
- Genome folding principles uncovered in condensin-depleted mitotic chromosomes
- Gut microbiota promotes pain chronicity in Myosin1A deficient male mice
- HELQ deficiency impairs the induction of primordial germ cell-like cells
- HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B
- Identification of a molecular network regulated by multiple ASD high risk genes
- Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans
- Impaired B-cell function in ERCC2 deficiency
- Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome
- Insights into the molecular mechanism of ParABS system in chromosome partition by HpParA and HpParB
- James German and the Quest to Understand Human RECQ Helicase Deficiencies
- KBM-mediated interactions with KU80 promote cellular resistance to DNA replication stress in CHO cells
- Kismet/CHD7/CHD8 and Amyloid Precursor Protein-like Regulate Synaptic Levels of Rab11 at the <em>Drosophila</em> Neuromuscular Junction
- 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
- Lysosomal dysfunction-derived autophagy impairment of gingival epithelial cells in diabetes-associated periodontitis with altered protein acetylation
- m6A-methylated Lonp1 drives mitochondrial proteostasis stress to induce testicular pyroptosis upon environmental cadmium exposure
- Marked Response to Nivolumab by a Patient With SMARCA4-Deficient Undifferentiated Urothelial Carcinoma Showing High PD-L1 Expression: A Case Report
- Mismatch repair protein deficiency in triple-negative breast carcinomas
- Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis
- MRNIP limits ssDNA gaps during replication stress
- Multi-step control of homologous recombination via Mec1/ATR suppresses chromosomal rearrangements
- Multiple primary tumors in children: a clinicopathological analysis of four cases
- MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report
- Nfe2l2/NRF2 Deletion Attenuates Tumorigenesis and Increases Bacterial Diversity in a Mouse Model of Lynch Syndrome
- Nucleolytic processing of abasic sites underlies PARP inhibitor hypersensitivity in ALC1-deficient BRCA mutant cancer cells
- Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
- Predictors for dMMR colorectal cancer in patients with serrated lesions and polyps - A register-based cohort study
- Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
- Prolyl isomerase Pin1 in skeletal muscles contributes to systemic energy metabolism and exercise capacity through regulating SERCA activity
- Proteolytic control of FixT by the Lon protease impacts FixLJ signaling in <em>Caulobacter crescentus</em>
- R-loops and impaired autophagy trigger cGAS-dependent inflammation via micronuclei formation in Senataxin-deficient cells
- Rare SMARCA4-deficient thoracic tumor: Insights into molecular characterization and optimal therapeutics methods
- Research progress on regulatory mechanism of renal copper homeostasis
- Role of Na/K-ATPase α1 caveolin-binding motif in adipogenesis
- Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation
- SMARCA2 and SMARCA4 Participate in DNA Damage Repair
- SMARCA4 (BRG1)-deficient sinonasal carcinoma with yolk sac tumor differentiation: a clinicopathological analysis of two cases
- SMARCA4-deficient central nervous system metastases: A case series and systematic review
- SMARCA4-Deficient Poorly Differentiated Adenocarcinoma of the Gallbladder
- SMARCA4-deficient undifferentiated gastric carcinoma: a case series and literature review
- SMARCA4-deficient undifferentiated tumor with high quality of life and far exceeding predicted survival: A case report
- SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature
- SNORD88B-mediated WRN nucleolar trafficking drives self-renewal in liver cancer initiating cells and hepatocarcinogenesis
- Structural basis for a Polθ helicase small-molecule inhibitor revealed by cryo-EM
- Structure and topography of the synaptic V-ATPase-synaptophysin complex
- Subunit Communication within Dimeric SF1 DNA Helicases
- Successful treatment with tislelizumab plus chemotherapy for SMARCA4-deficient undifferentiated tumor: a case report
- Suppressors of Blm-deficiency identify three novel proteins that facilitate DNA repair in Ustilago maydis
- Synthetic lethality: targeting the SMARCA2 bromodomain for degradation in SMARCA4-deficient tumors - a review of patent literature from 2019-June 2023
- The mitochondrial protease ClpP is a druggable target that controls VSMC phenotype by a SIRT1-dependent mechanism
- The polySUMOylation axis promotes nucleolar release of Tof2 for mitotic exit
- The Role of FtsH Complexes in the Response to Abiotic Stress in Cyanobacteria
- Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease
- TMEFF1 is a neuron-specific restriction factor for herpes simplex virus
- Toxicity of the model protein 3×GFP arises from degradation overload, not from aggregate formation
- Transcription-coupled repair of DNA-protein cross-links depends on CSA and CSB
- Tubulin glycylation controls ciliary motility through modulation of outer-arm dyneins
- Universal Lynch Syndrome Screening in Colorectal Cancer: A 5-Year Experience of a Portuguese Pathology Department
- Yolk Sac Differentiation in Endometrial Carcinoma: Incidence and Clinicopathologic Features of Somatically Derived Yolk Sac Tumors Versus Carcinomas With Nonspecific Immunoexpression of Yolk Sac Markers
- YY1 is involved in homologous recombination inhibition at guanine quadruplex sites in human cells
- ZMYND12 serves as an IDAd subunit that is essential for sperm motility in mice