Results 151 to 160 of about 28,506 (225)

Naked cuticle homolog 2 controls the differentiation of osteoblasts and osteoclasts and ameliorates bone loss in ovariectomized mice

Genes and Diseases
Naked cuticle homolog 2 (NKD2) has been recognized as an antagonist of Wnt/β-catenin signaling and a tumor suppressor. The role of NKD2 in osteoblast and osteoclast differentiation and the mechanism are not fully understood.
Liying Shan, Xiaoxia Liao, Xiaoli Yang, Endong Zhu, Hairui Yuan, Jie Zhou, Xiaoxia Li, Baoli Wang   +7 more
doaj   +1 more source

Synergistic antiviral activity against human adenovirus through combination of itraconazole and brincidofovir

British Journal of Pharmacology, Volume 183, Issue 7, Page 1578-1601, April 2026.
Background and Purpose Human adenovirus (HAdV) causes respiratory or gastrointestinal tract infections depending on the virus subtype. While HAdV infections are generally self‐limiting in immunocompetent people, they can result in significant morbidity and mortality in immunocompromised adults and children.
Mohamed Zamzamy, Sophie Post, Wing Hang Ip, Elin Hahlin, Sebastian Kühn, Andrea Pirosu, Christian Conze, Martin Baumdick, Hamburg Intestinal Study Group, Madeleine J. Bunders, Britta F. Zecher, Angelique Hoelzemer, Stephan Linder, Niklas Arnberg, Thomas Dobner, Marcus Altfeld, Sebastian Schloer   +16 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Mammalian target of rapamycin complex 1 (mTORC1); tuberous sclerosis complex tumor suppressors 1 and 2 (TSC1 and TSC2); unfolded protein response (UPR) [PDF]

Science-Business eXchange, 2008
openaire   +1 more source

Tuberous sclerosis complex: everything old is new again [PDF]

, 2009

core   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

From mechanism to phenotype: What fits in a basket trial

Epilepsia, Volume 67, Issue 4, Page 1573-1581, April 2026.
Kette D. Valente
wiley   +1 more source

A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B. [PDF]

CEN Case Rep
Sugimoto H, Sawa N, Oba Y, Mizuno H, Sekine A, Yamanouchi M, Tanaka K, Hasegawa E, Suwabe T, Wada T, Yokoyama T, Miki K, Nakamura Y, Ishii Y, Kono K, Ohashi K, Takazawa Y, Fujimaru T, Mori T, Sohara E, Ubara Y.   +20 more
europepmc   +1 more source

Tuberous sclerosis complex with multisystem involvement: A case report. [PDF]

J Int Med Res
Chen H, Shi M, Yu Y, Zhang Z, Du Z.
europepmc   +1 more source

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family. [PDF]

Mol Genet Genomic Med
Tuller E, Samuels JA, Northrup H, Richardson K.   +3 more
europepmc   +1 more source