Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces by C. Gils, M.-C. Eckhardt, P. E. Nielsen, M. Nybo

“…Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. …”
Get full text

Mitochondrial transplantation: a promising strategy for the treatment of retinal degenerative diseases by Jing Chi, Bin Fan, Yulin Li, Qing Jiao, Guang-Yu Li

“…However, in retinal degenerative diseases, mitochondrial dysfunction significantly contributes to disease progression, involving a decline in membrane potential, the occurrence of DNA mutations, increased oxidative stress, and imbalances in quality-control mechanisms. …”
Get full text

Therapies for Mitochondrial Disorders by Kayli Sousa Smyth, Anne Mulvihill

“…Many MTDS emerge from either homoplasmic or heteroplasmic mutations of the DNA, and include mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. …”
Get full text

GATA2 participates in protection against hypoxia-induced pulmonary vascular remodeling. by Yuko Shirota, Shin'ya Ohmori, James Douglas Engel, Takashi Moriguchi

“…The transcription factor GATA2 is essential for hematopoiesis and maintaining vascular integrity. Heterozygous mutations in GATA2 can lead to a primary immunodeficiency syndrome with pulmonary manifestations. …”
Get full text

Multi-tissue characterization of the constitutive heterochromatin proteome in Drosophila identifies a link between satellite DNA organization and transposon repression. by Ankita Chavan, Lena Skrutl, Federico Uliana, Melanie Pfister, Franziska Brändle, Laszlo Tirian, Delora Baptista, Dominik Handler, David Burke, Anna Sintsova, Pedro Beltrao, Julius Brennecke, Madhav Jagannathan

“…We further demonstrate that this gonadal atrophy can be rescued by mutating the checkpoint kinase, Chk2, which mediates germ cell arrest in response to transposon mobilization. …”
Get full text

Cellular and genetic analysis of wound healing in Drosophila larvae. by Michael J Galko, Mark A Krasnow

“…Inactivation of the JNK pathway inhibits epidermal spreading and reepithelialization but does not affect scab formation or other wound healing responses. Conversely, mutations that block scab formation, and a scabless wounding procedure, provide evidence that the scab stabilizes the wound site but is not required to initiate other wound responses. …”
Get full text

Mitochondrial Dysfunction and Sirtuins: Important Targets in Hearing Loss by Lingjun Zhang, Zhengde Du, Shusheng Gong

“…Reactive oxygen species (ROS) are mainly derived from mitochondria, and oxidative stress induced by ROS contributes to cochlear damage as well as mitochondrial DNA mutations, which may enhance the sensitivity and severity of hearing loss and disrupt ion homeostasis (e.g., Ca2+ homeostasis). …”
Get full text

Unidirectional MCM translocation away from ORC drives origin licensing by Agata Butryn, Julia F. Greiwe, Alessandro Costa

“…We observe that duplex DNA translocation by MCM involves a set of leading-strand contacts by the pre-sensor 1 ATPase hairpins and lagging-strand contacts by the helix-2-insert hairpins. Mutating any of the MCM residues involved impairs high-salt resistant DNA binding in vitro and double-hexamer formation assessed by electron microscopy. …”
Get full text

Structural Exploration and Conformational Transitions in MDM2 upon DHFR Interaction from Homo sapiens: A Computational Outlook for Malignancy via Epigenetic Disruption by Arundhati Banerjee, Sujay Ray

“…Therefore, this probe instigates near-future clinical research and interactive computational investigations with mutations.…”
Get full text

Influence of N6-Methyladenosine Modification Gene HNRNPC on Cell Phenotype in Parkinson’s Disease by Wei Quan, Jia Li, Li Liu, Qinghui Zhang, Yidan Qin, Xiaochen Pei, Jiajun Chen

“…For example, the data of the experimental group and the validation group come from different cell types, and the data of the experimental group involve individuals with G2019S LRRK2 mutations. In addition, due to the low expression of HNRNPC in PC12 cells, we used the method of overexpressing this gene to study its function. …”
Get full text

Whole exome sequencing identifies genomic alterations in proximal and distal colorectal cancer by Ryia-Illani Mohd Yunos, Nurul-Syakima Ab Mutalib, Sheau Sean Khor, Sazuita Saidin, Mohd Ridhwan Abd Razak, Norshahidah Mahamad Nadzir, Zuraini Abd. Razak, Isa Mohamed Rose, Ismail Sagap, Luqman Mazlan, Nadiah Abu, Rahman Jamal

“…On the other hand, TP53 mutations did not show any CRC anatomical predominance. …”
Get full text

Case Report of Atypical Juxtaglomerular Cell Tumor by Satoru Munakata, Eisuke Tomiyama, Hitoshi Takayama

“…Because of massive necrosis and mitotic figures, diagnosis of atypical (potentially malignant) JGCT was rendered. Gene mutations for IDH1, PIK3CA, K-ras, N-ras, Braf, and EGFR were not found by MBP-QP system.…”
Get full text

Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model. by Yoon Seok Nam, Eun-Ji Gi, Yoo-Seung Ko, Sungsu Lee, Hyong-Ho Cho

“…Alport syndrome (AS) is a genetic disorder marked by mutations in type IV collagen, leading to kidney glomerular dysfunction. …”
Get full text

Review of modern techniques and analysis of patient outcomes with benign familial pemphigus Gougereau–Haley–Haley by Marianna B. Drozhdina, Sergey V. Koshkin

“…Benign familial pemphigus (BFP) Gougereau–Haley–Haley is a rare autosomal dominant genodermatosis caused by mutations of the ATP2C1 gene responsible for the function of calcium-dependent ATPases regulating calcium sequestration in the Golgi apparatus. …”
Get full text

Major Organic Involvement in Women with Fabry Disease in Argentina by Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche

“…Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. …”
Get full text

Nidoviruses associated with aquatic animals by L. P. Buchatsky, V. V. Makarov

“…Like other single-stranded RNA viruses, nidoviruses have a relatively high ability to mutate and recombine, which allows them to quickly adapt to new hosts and new ecological niches. …”
Get full text

Novel classification system and high-risk categories of pediatric acute myeloid leukemia by Masayuki Umeda, Yen-Chun Liu, Seth E. Karol, Jeffery M. Klco

“…Molecular categories in the new classification system are associated with unique transcriptional, mutational, and clinical characteristics, which can be leveraged for predicting clinical outcomes and developing molecular-target therapies based on the initiating driver alterations. …”
Get full text

SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies by Eirini Sevdali, Elena Tsitsami, Maria Tsinti, Evangelia Farmaki, Efimia Papadopoulou-Alataki, Anastasios E. Germenis, Matthaios Speletas

“…In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. …”
Get full text

The Role of Mannose-Binding Lectin in Severe Sepsis and Septic Shock by Gennaro De Pascale, Salvatore Lucio Cutuli, Mariano Alberto Pennisi, Massimo Antonelli

“…More than 30% of humans harbor mutations in MBL gene (MBL2) resulting in reduced plasmatic levels and activity. …”
Get full text

HER2-related biomarkers predict clinical outcomes with trastuzumab deruxtecan treatment in patients with HER2-expressing metastatic colorectal cancer: biomarker analyses of DESTINY... by Salvatore Siena, Kanwal Raghav, Toshiki Masuishi, Kensei Yamaguchi, Tomohiro Nishina, Elena Elez, Javier Rodriguez, Ian Chau, Maria Di Bartolomeo, Hisato Kawakami, Fumitaka Suto, Makito Koga, Koichiro Inaki, Yusuke Kuwahara, Issey Takehara, Daniel Barrios, Kojiro Kobayashi, Axel Grothey, Takayuki Yoshino

“…Baseline circulating tumor DNA (ctDNA) analysis suggests antitumor activity of T-DXd in patients who had baseline activating RAS, PIK3CA, or HER2 mutations detected in ctDNA.…”
Get full text