Results 91 to 100 of about 71,358 (215)

The potential for biased signalling in the P2Y receptor family of GPCRs

British Journal of Pharmacology, EarlyView.
The purinergic receptor family is primarily activated by nucleotides, and contains members of both the G protein coupled‐receptor (GPCR) superfamily (P1 and P2Y) and ligand‐gated ion channels (P2X). The P2Y receptors are widely expressed in the human body, and given the ubiquitous nature of nucleotides, purinergic signalling is involved with a plethora
Claudia M. Sisk, Simon Pitchford, Graham Ladds   +2 more
wiley   +1 more source

Current Approaches to Support Patients to Withdraw From Image and Performance Enhancing Drugs

Clinical Endocrinology, EarlyView.
ABSTRACT Image and performance‐enhancing drugs (IPEDs) include agents such as androgens, growth hormone, and erythropoietin, which are used to enhance appearance and physical performance. Androgens, also known as anabolic‐androgenic steroids (AAS), are the most used IPEDs worldwide.
Elizabeth Hyams, Bonnie Grant, Richard Quinton, Channa N. Jayasena   +3 more
wiley   +1 more source

Case series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability

BMC Pediatrics
Background Kidney transplantation is the gold standard treatment for end-stage kidney disease in children. Rare genetic systemic diseases associated with cystic kidney disease such as COL4A1-related disorder and oral facial digital syndrome type 1 could ...
Marina Mata, Marina M. Tabbara, Angel Alvarez, Jayanthi Chandar, Marissa Defreitas, Gaetano Ciancio   +5 more
doaj   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

Human iPSC‐Derived Vascularised Lung Organoids for Modelling COPD and Pulmonary Hypertension

Cell Proliferation, EarlyView.
Vascularised lung organoids (vLOs) that faithfully mimic human lung tissue architecture and disease pathology are critical for advancing pulmonary research but remain challenging to generate. Here, we developed a robust self‐organisation protocol to produce vLOs with cellular heterogeneity and functional vasculature. The engineered blood vessels within
Simin Jiang, Liangliang Tian, Jingge Qu, Yi Hong, Dian Chen, Zihang Pan, Huanyu Long, Lanhe Chu, Weijing Kong, Qiyang Yao, Xiaojing Ma, Yun Zhao, Baihui Ma, Kai Wang, Yahong Chen   +14 more
wiley   +1 more source

Squamoid Eccrine Ductal Carcinoma: Case Series of a Rare, Potentially Aggressive Skin Cancer Associated With Immunosuppression

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Squamoid Eccrine Ductal Carcinoma (SEDC) is a rare cutaneous adenexal carcinoma first described in 1997. It has distinct biphasic features on histology which commonly result in misdiagnosis as Bowen disease or cutaneous squamous cell carcinomas (cSCC) if diagnostic skin biopsies are too superficial. This may lead to a delay in diagnosis. It is
Xiang Li Tan, Pooja Patel, Jeva Cernova, Sarah Hogan, Jason Thomson, Efthymios Hadjimichael, Sharanpal Jeetle, Dorota Markiewicz, Michael Sheaff, Nilukshi Wijesuriya, Mark Hawthorne, Graeme Moir, Matthew Stodell, Kapil Bhargava, Suchitra Chinthapalli, Catherine A. Harwood   +15 more
wiley   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

HMGA2 is a highly sensitive marker for DICER1‐related tumours

Histopathology, EarlyView.
Aims DICER1 is a microRNA biogenesis enzyme that, when mutated, results in a rewiring of the transcriptome. Germline pathogenic variants (PVs) in DICER1 result in DICER1‐related tumour predisposition (DRTP) characterized by 30 or more different, generally rare, paediatric or adolescent‐onset tumours.
Paul S. Thorner, Anne‐Laure Chong, Naciba Benlimane, Lili Fu, Marc R. Fabian, William D. Foulkes   +5 more
wiley   +1 more source

Clinicopathological and molecular comparison of eosinophilic solid and cystic renal cell carcinoma and TFEB‐amplified renal cell carcinoma: a comprehensive study of 15 cases

Histopathology, EarlyView.
This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow, Melissa Y. Tjota, Jung Woo Kwon, Tatjana Antic   +3 more
wiley   +1 more source

Lymphocystis Disease in Endemic Aotearoa New Zealand Bully (Gobiomorphus cotidianus)

Journal of Fish Diseases, EarlyView.
ABSTRACT We detected lymphocystis disease virus (LCDV) for the first time in an Aotearoa New Zealand freshwater environment, from an individual common bully, toitoi, Gobiomorphus cotidianus (Eleotridae). Dinah's bully, Gobiomorphus dinae, and Kaharore bully, Gobiomorphus mataraerore, also exhibited gross nodular lesions on the fins but were not sampled.
Kate S. Hutson, Karthiga Kumanan, Anne Rolton, Emily C. Giles, Joy A. Becker, Maeve Ballantyne, Tim Hewison, Georgia S. Steel, Joshua Wardle, Ashley Webby, Bram T. M. Mulling   +10 more
wiley   +1 more source