Results 111 to 120 of about 28,708 (231)

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

open access: yesClinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa   +4 more
wiley   +1 more source

Interim analysis of the multinational, post-authorization safety study (NISSO) to assess the long-term safety of sonidegib in patients with locally advanced basal cell carcinoma

open access: yesBMC Cancer
Background Following the pivotal phase II trial BOLT, the Hedgehog (Hh) inhibitor sonidegib was approved in the EU to treat locally advanced basal cell carcinoma (laBCC) in patients not amenable to surgery or radiotherapy.
Ralf Gutzmer   +14 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

open access: yesClinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree   +18 more
wiley   +1 more source

Hedgehog Pathway and Programmed Cell Death Protein-1 Inhibitors for Advanced Basal Cell Carcinoma

open access: yesCase Reports in Dermatology
Introduction: Basal cell carcinoma (BCC) is treated with local surgery or noninvasive treatment modalities. If a BCC remains untreated, it can develop into a locally advanced BCC or a metastatic BCC.
Babette J.A. Verkouteren   +3 more
doaj   +1 more source

Development of hedgehog pathway inhibitors by epigenetically targeting GLI through BET bromodomain for the treatment of medulloblastoma. [PDF]

open access: yesActa Pharm Sin B, 2021
Liu X   +9 more
europepmc   +1 more source

Cortical‐Hypothalamic Assembloids Uncover the Cortical Regulation of Hypothalamic Responses to Fatty Acid

open access: yesCell Proliferation, EarlyView.
By assembling cortical‐hypothalamic circuits, we show that cortical input protects hypothalamic neurons from fatty acid‐induced damage, which activates PGC1α to boost mitochondrial function. This reveals a cortico‐hypothalamic axis that defends against metabolic stress.
Mengdan Tao   +10 more
wiley   +1 more source

Thoughts on investigational hedgehog pathway inhibitors for the treatment of cancer [PDF]

open access: yesExpert Opinion on Investigational Drugs, 2016
Tarkan, Jäger   +4 more
openaire   +2 more sources

High Uric Acid Promotes Stem Leydig Cell Senescence by CCDC90B Mediates Mitochondrial Quality Control Imbalance

open access: yesCell Proliferation, EarlyView.
In hyperuricemia, uric acid inhibits CCDC90B ubiquitination degradation by binding to it. Excessive CCDC90B induces mitochondrial calcium overload, leading to mitochondrial quality control imbalance and ultimately resulting in SLC senescence and decreased testosterone levels.
Jiayu Huang   +8 more
wiley   +1 more source

Depicting the Immunological Landscape of Basal Cell Carcinoma Subtypes

open access: yesJournal of Cutaneous Pathology, EarlyView.
ABSTRACT Background Anti‐PD‐1 response has been associated with higher PD‐1 ligand (PD‐L1) expression levels in different cancer types. Cemiplimab, an anti‐PD‐1 antibody, has been shown to induce a response rate of 31% and 22% in patients with locally advanced basal cell carcinoma (BCC) and metastatic BCC respectively, who have progressed or are ...
Isabella Dommann   +9 more
wiley   +1 more source

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