Results 201 to 210 of about 241,061 (333)

Homozygosity for a variant in SLC10A2 and infancy onset severe fat‐soluble vitamin deficiency due to bile acid malabsorption

JPGN Reports, EarlyView.
Abstract We present a case of a young female patient with persistent and severe fat‐soluble vitamin deficiency since infancy. Despite extensive investigations during childhood, the underlying cause remained elusive. The patient was generally asymptomatic while receiving continuous vitamin subsidy.
Christine Rungoe, Stefan Stender, Nawar Dalila, Emil D. Bartels, Christian Jakobsen   +4 more
wiley   +1 more source

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
europepmc   +1 more source

Editorial: Structural understanding of the functional consequences of missense mutation. [PDF]

Front Genet, 2023
Tian J, McFarland CD, Woodard J.
europepmc   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization [PDF]

, 1998
Katsumi Goji, Eüi Nishijima, Chikara Tsugawa, Hisahide Nishio, Rohit Kumar Pokharel, Masafumi Matsuo   +5 more
openalex   +1 more source

Genomic Profiling of Biliary Tract Cancers: Comprehensive Assessment of Anatomic and Geographic Heterogeneity, Co‐Alterations and Outcomes

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background Biliary tract cancers (BTCs) represent distinct biological and genomic entities. Anatomic and geographic heterogeneity in genomic profiling of BTC subtypes, genomic co‐alterations, and their impact on long‐term outcomes are not well defined.
Diamantis I. Tsilimigras, Hunter Stecko, Dimitrios Moris, Timothy M. Pawlik   +3 more
wiley   +1 more source

Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation. [PDF]

Cureus
Faraz S, Nikhat F, Hayel Suleiman Beshtawi H, Malik SA, Yahya Hashim K.   +4 more
europepmc   +1 more source

Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal [PDF]

, 1998
Yvonne Lundberg, Martin Ritzén, Jonas Harlin, Anna Wedell   +3 more
openalex   +1 more source

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements [PDF]

, 1999
Ian D’Souza, Parvoneh Poorkaj, Ming Hong, David Nochlin, Virginia M.‐Y. Lee, Thomas D. Bird, Gerard D. Schellenberg   +6 more
openalex   +1 more source

Mapping protein–protein interactions by mass spectrometry

Mass Spectrometry Reviews, EarlyView.
Abstract Protein–protein interactions (PPIs) are essential for numerous biological activities, including signal transduction, transcription control, and metabolism. They play a pivotal role in the organization and function of the proteome, and their perturbation is associated with various diseases, such as cancer, neurodegeneration, and infectious ...
Xiaonan Liu, Lawrence Abad, Lopamudra Chatterjee, Ileana M. Cristea, Markku Varjosalo   +4 more
wiley   +1 more source