Results 251 to 260 of about 1,703,111 (346)

Defects in <i>PDIA4</i> increase individuals' susceptibility to congenital heart disease. [PDF]

Front Genet
Lu Y, Liu J, Sun S, Feng Z, Gao Y, Min S, Zhuang Q, Lin S, Zhao Q, Huang X, Sheng W, Huang G.   +11 more
europepmc   +1 more source

RNA-based discovery and correction of splicing defects caused by <i>POLR3A</i> missense mutations. [PDF]

Mol Ther Nucleic Acids
Shkreta L, Delannoy A, Toutant J, McSwiggen J, Chabot B.   +4 more
europepmc   +1 more source

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan   +2 more
core   +1 more source

A mulberry in female hypertrophic cardiomyopathy. [PDF]

Oxf Med Case Reports
Imataki O, Maekawa K, Tamura M, Kitanaka A.   +3 more
europepmc   +1 more source

Smart Integration of Structural Biology and Medicinal Chemistry to Unlock Target‐Driven Drug Discovery

Medicinal Research Reviews, EarlyView.
ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano, Giulia Apprato, Serena Francisco, Giuseppe Ermondi, Giulia Caron   +4 more
wiley   +1 more source

<i>In silico</i> Analysis of <i>CHD4</i> Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases. [PDF]

Hum Mutat
Novillo A, Ysbert M, Brea R, Hidalgo-Estévez AM, El Abdellaoui-Soussi F, Gómez-Del Arco P.   +5 more
europepmc   +1 more source

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, EarlyView.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen, Satu Tiainen, Jouni Kujala, Linnea Muhonen, Ponnuswamy Mohanasundaram, Tuomas Tikkanen, Ina Pöhner, Tommi Patinen, Simone Adinolfi, Juha P Väyrynen, Päivi Auvinen, Arto Mannermaa, Petri Pölönen, Tuomas Rauramaa, Anna‐Liisa Levonen   +14 more
wiley   +1 more source

Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (<i>NNT</i>) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families. [PDF]

J Clin Transl Endocrinol
Alwan IA, Ali RH, Umair M, Khan IA, Alotaibi N, Aloyouni E, Alwadaani D, Alayyar L, Haddad S, Alawaji S, Althenayyan S, Alfaidi A, Algattan M, Alquraishi AS, Alzaben A, Alfaraidi H, Almulhem B, Almannai M, Alfadhel M.   +18 more
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source