Results 151 to 160 of about 88,097 (293)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Evaluation of cardiac histology and cell death markers during the progression of diabetes in a streptozotocin‐induced diabetes rat model

Animal Models and Experimental Medicine, EarlyView.
Daily insulin administration in streptozotocin‐induced diabetic rats prevented cardiac damage associated with diabetic cardiomyopathy, including hypertrophy, fibrosis, and expression of cell death markers, at 12 weeks. However, cyclophilin D, a marker of mitochondrial permeability transition pore‐opening‐associated cell death (necrosis), was observed ...
Tamara Sáez, Ivo Carrasco‐Wong, Juan Varas, Sebastián San Martín, Jaime A. Riquelme, Rienzi Díaz‐Navarro   +5 more
wiley   +1 more source

Dose‐dependent pathogenicity and inflammatory imbalance in severely immunodeficient mice infected with mpox virus

Animal Models and Experimental Medicine, EarlyView.
This study establishes an NPG (NOD.Cg‐Prkdcscid Il2rgtm1/Vst) mouse model for severe monkeypox virus infection in immunocompromised hosts, demonstrating dose‐dependent disease severity and revealing that unbalanced pro‐inflammatory cytokine release drives pathogenesis, providing insights for therapeutic interventions. Abstract The global spread of mpox
Na Li, Ziqing Jia, Zhe Cong, Jianrong Ma, Jiahan Lu, Yongzhi Hou, Fei Wang, Jiasen Yang, Ting Chen, Jingjing Zhang, Dong Zhang, Jing Xue   +11 more
wiley   +1 more source

Transcriptome analysis and cellular background of the marble pigment pattern formation in marble trout (Salmo marmoratus, Cuvier 1817)

, 2018
S celovitim pristopom in z uporabo tako celično-bioloških kot genetskih pristopov smo raziskovali mehanizem nastanka vzorca v koži soške in potočne postrvi.
Djurdjevič, Ida
core  

Embedding Chemistry and Pharmacy Into Sustainability

Angewandte Chemie International Edition, EarlyView.
Chemistry and pharmacy provide products and processes that are indispensable for our high living standard. To understand their relationship with sustainability is important to allow them to contribute to sustainability in a sustainable manner. An integrated overview of green, circular, and sustainable chemistry and pharmacy is given and how they have t
Klaus Kümmerer
wiley   +1 more source

Graded BMP signals modulate yellow and red color in fishes, impacting adult pigment patterns and conspecific shoaling behavior. [PDF]

Curr Biol
Huang D, de Mello PLH, Liu T, Liu Y, Kapadia EH, Liang Y, Lu J, Corbo JC, Parichy DM.   +8 more
europepmc   +1 more source

A case of acute retinal pigment epithelitis: spectral domain optical coherence tomography time course and physiopathologic hypothesis

, 2010
Nathalie Puche1, Olivier Offret1, Jean-Antoine Bernard1, Francine Behar-Cohen1,21Department of Ophthalmology, Hotel Dieu de Paris, AP-HP, Université Paris Descartes; 2Inserm UMRS872, Physiopathology of Ocular Diseases: Therapeutic Innovations,
Nathalie Puche, Jean-Antoine Bernard, et al, Olivier Offret   +3 more
core  

Functions of thyroid hormone signaling in regulating melanophore, iridophore, erythrophore, and pigment pattern formation in spotted scat (Scatophagus argus). [PDF]

BMC Genomics
Liao Y, Han T, Jiang D, Zhu C, Shi G, Li G, Shi H.   +6 more
europepmc   +1 more source

Pracaxi Oil as a Potential Inhibitor of Fat Bloom

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT Fat bloom is one of the major technological challenges faced by the chocolate industry, caused by the polymorphic transition from β2(V) to β1(VI) crystals in cocoa butter (CB). One strategy to slow down this polymorphic transition is the addition of lipids rich in very long chain fatty acids (VLCFA), such as behenic acid.
Victoria Marques Gropelli, Priscila Dayane De Freitas Santos, Thayná Torres Da Silva, Ana Paula Badan Ribeiro, Rosiane Lopes Cunha   +4 more
wiley   +1 more source