Results 301 to 310 of about 152,200 (329)

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

Dominant‐Negative Effects of p53 R337 Variants in Li–Fraumeni Syndrome: Impact on Tetramer Formation and Transcriptional Activity

ChemBioChem, EarlyView.
Hetero‐tetramer dysfunction: Li–Fraumeni syndrome (LFS) is a hereditary cancer predisposition caused by mutations in the TP53 gene encoding the tumor suppressor p53. It is shown that p53 variants R337C and R337H, found in LFS, impair wild‐type (WT) p53 function by forming heterotetramers with reduced transcriptional activity.
Rui Kamada, Shuya Sakaguchi, Madoka Kanno, Takaaki Ozawa, Natsumi Nakagawa, James G. Omichinski, Kazuyasu Sakaguchi   +6 more
wiley   +1 more source

Loss of heterozygosity spectrum varies with ploidy levels in natural yeast populations

, 2022
Dutta A, Dutreux F, Schacherer J.
europepmc   +1 more source

CALR Type 1‐Like Mutations Increase Endoplasmic Reticulum Free Ca2+ and Induce ERK1/2 Activation Independent of Thrombopoietin Receptor Activation

Cell Biology International, EarlyView.
ABSTRACT Calreticulin is a multifunctional protein found in the endoplasmic reticulum lumen that is important for calcium homeostasis and glycoprotein folding. Mutations in exon 9 of the CALR gene are the second most common genetic cause of myeloproliferative neoplasms.
Mifra Faiz, Caitlin Dunstan‐Harrison, Elizabeth C. Ledgerwood   +2 more
wiley   +1 more source

Ionizing radiation induces cells with past caspase activity that contribute to the adult organ in Drosophila and show reduced Loss of Heterozygosity. [PDF]

Cell Death Discov
Colon Plaza S, Su TT.
europepmc   +1 more source

PEK14: A Kinesin‐4 Necessary for Male‐Derived Fertility in Arabidopsis thaliana

Cytoskeleton, EarlyView.
ABSTRACT Of the 61 kinesins annotated in Arabidopsis thaliana, many are still without assigned function. Here, we have screened an insertional mutant library of Arabidopsis pollen‐expressed kinesins for fertility defects. Insertional mutants for three kinesins showed a significant reduction in seed set.
Isabella N. Mendes, Norman R. Groves, Jessica Z. Li, Lily N. Thompson, Brian J. Smith, Aman Y. Husbands, Iris Meier   +6 more
wiley   +1 more source

LZTS2 Negatively Regulates Centrosomal CEP135 Levels and Microtubule Nucleation

Cytoskeleton, EarlyView.
ABSTRACT The microtubule cytoskeleton is a fundamental functional component of the cell. In vertebrate proliferating cells, centrosomes are the primary microtubule organizing center (MTOC), and their dysregulation has been linked to genomic instability and cancer.
Catarina Peneda, Joana N. Bugalhao, Marco Antonio Dias Louro, Andreia Henriques‐Soares, Monica Bettencourt‐Dias   +4 more
wiley   +1 more source

Genomic insights into red squirrels in Scotland reveals loss of heterozygosity associated with extreme founder effects

Marr MM, Humble E, Lurz PWW, Wilson LA, Milne E, Beckmann KM, Schoenebeck J, Fung U, Kitchener AC, Kortland K, Edwards C, Ogden R.   +11 more
europepmc   +1 more source

RAB19, SERPINB9P1, and Pancreatitis in Patients Taking Azathioprine in Routine Clinical Practice: Genome and Transcriptome‐Wide Association Studies

Clinical Pharmacology &Therapeutics, EarlyView.
Azathioprine is used to treat several inflammatory and autoimmune diseases. However, its use is limited by serious adverse events, including acute pancreatitis. Prior studies have found an association between the HLA region and thiopurine‐induced acute pancreatitis (TIAP); however, in clinical practice, many patients with pancreatitis do not meet this ...
Shailja C. Shah, Tyler S. Reese, Laura L. Daniel, Jacy Zanussi, Alyson L. Dickson, Puran Nepal, Ran Tao, Tyne Miller‐Fleming, Peter Straub, Jennifer Maizel, Adriana M. Hung, Wei‐Qi Wei, Elizabeth J. Phillips, Nancy J. Cox, C. Michael Stein, QiPing Feng, Cecilia P. Chung   +16 more
wiley   +1 more source

Loss of the epithelial transcription factor grhl3 leads to variably penetrant developmental phenotypes in zebrafish

Developmental Dynamics, EarlyView.
Abstract Background Environmental influence is critical for embryogenesis but is significantly under‐appreciated under lab conditions, which are not typically designed to robustly test environmental variability. Here, we report environmental effects on the developmental phenotype of zebrafish lacking the transcription factor Grainyhead‐like 3 (grhl3 ...
Nishanthi Mathiyalagan, Travis K. Johnson, Zachary Di Pastena, Jarrad N. Fuller, Lee B. Miles, Sebastian Dworkin   +5 more
wiley   +1 more source