Results 111 to 120 of about 64,503 (262)

Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene

Stem Cell Research
Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta (PIK3CD) gene (OMIM#602839) encodes the p110δ catalytic subunit, mainly expressed in immune cells, and is associated with autosomal dominant immunodeficiency-14A with ...
Hongmei Xin, Yuqiang Lv, Xuxia Wei, Wei Song, Zilong Li, Yi Liu, Zhongtao Gai   +6 more
doaj   +1 more source

Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. [PDF]

Int J Mol Sci, 2019
Keatley K, Stromei-Cleroux S, Wiltshire T, Rajala N, Burton G, Holt WV, Littlewood DTJ, Briscoe AG, Jung J, Ashkan K, Heales SJ, Pilkington GJ, Meunier B, McGeehan JE, Hargreaves IP, McGeehan RE.   +15 more
europepmc   +1 more source

From pathogen to “living drug factory” innovative strategies and clinical translation of bacteria as programmable intelligent vectors for cancer therapy

BMEMat, EarlyView.
Engineered bacteria serve as smart, living therapeutics that target tumors, deliver drugs, and remodel immunosuppressive microenvironments. This review highlights their potential to potentiate immunotherapy, radiotherapy, and chemotherapy, offering a promising paradigm for precise and synergistic cancer treatment. Abstract The dynamic interplay between
Haonan Shen, Weichen Zhang, Gaoli Niu, Li Wang, Ruiyan Li, Yueyue Fan, Feixue Lu, Lingling Xu, Xiaoyuan Ji, Yong Kang   +9 more
wiley   +1 more source

Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation. [PDF]

Blood Adv, 2017
Ram J, Flamm G, Balys M, Sivagnanalingam U, Rothberg PG, Iqbal A, Myers JR, Corbett A, Ashton JM, Mendler JH.   +9 more
europepmc   +1 more source

Challenges and Pitfalls to Diagnosing NUTM1‐Rearranged Neoplasia of the Pancreas by Cytology and Ancillary Studies

Diagnostic Cytopathology, EarlyView.
ABSTRACT Fine‐needle aspiration cytology specimens are frequently utilized for ancillary studies to identify diagnostic and prognostic information. This case highlights diagnostic pitfalls and challenges in diagnosing NUTM1‐rearranged neoplasia on pancreatic cytology.
Terrance J. Lynn
wiley   +1 more source

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. [PDF]

Genet Med, 2018
Buchanan DD, Stewart JR, Clendenning M, Rosty C, Mahmood K, Pope BJ, Jenkins MA, Hopper JL, Southey MC, Macrae FA, Winship IM, Win AK.   +11 more
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Oogenesis and germinal bed morphology of the brown anole (A. sagrei)

Developmental Dynamics, EarlyView.
Abstract Background The brown anole is a model species of the genus Anolis, a squamate (encompassing lizards and snakes) group widely studied in evolutionary, behavioral, and developmental biology. Full genome annotation, the establishment of gene editing techniques, and comprehensive description of reproductive tract morphology and embryogenesis in ...
Bonnie K. Kircher, Antonia Weberling, Erin J. Vance, Natalia A. Shylo, Katherine Starr, Zoe B. Griffin, Hannah Wilson, Melainia McClain, Florian Hollfelder, Suzannah A. Williams, Thomas J. Sanger, Richard R. Behringer, Paul A. Trainor   +12 more
wiley   +1 more source

Spatiotemporal cellular dynamics of the notochord shape intervertebral disc morphogenesis in the mouse embryo through apoptosis and proliferation

Developmental Dynamics, EarlyView.
Abstract Background The notochord is a midline structure essential for vertebrate embryogenesis, contributing to the development of the nervous system, digestive tract, and vertebral column. In particular, notochord signaling is indispensable for proper patterning and coordinated development of alternating vertebrae and intervertebral discs (IVDs ...
Julie Warin, Estelle Balissat, Pauline Colombier, Lily Paillat, Maeva Dutilleul, Anne Camus   +5 more
wiley   +1 more source

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD). [PDF]

BMC Med Genet, 2017
Ramchander NC, Ryan NA, Crosbie EJ, Evans DG.   +3 more
europepmc   +1 more source