Results 61 to 70 of about 3,804 (178)

Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene

Stem Cell Research, 2019
Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase
Rong Li, Amanda Baskfield, Yongshun Lin, Jeanette Beers, Jizhong Zou, Chengyu Liu, Fabrice Jaffré, Amy E. Roberts, Elizabeth A. Ottinger, Maria I. Kontaridis, Wei Zheng   +10 more
doaj   +1 more source

Advances in pancreatic cancer early diagnosis, prevention, and treatment: The past, the present, and the future

CA: A Cancer Journal for Clinicians, Volume 76, Issue 1, January/February 2026.
Abstract Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy with a dismal prognosis, largely because of late‐stage diagnosis and therapeutic resistance. PDAC incidence has been rising, with modifiable and non‐modifiable risk factors contributing to disease development.
Alessandro Mannucci, Ajay Goel
wiley   +1 more source

PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD [PDF]

, 2011
LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia ...
김미리, 김희정, Hee Jung Kim, 이민걸, Min-Geol Lee, Jihyun Kim, Mi Ri Kim, 이경아, Kyung-A Lee   +8 more
core   +1 more source

Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma

, 2000
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself.
V. C. Kantharia, D. R. Sahu, M. S. Tullu, B. A. Bharucha, S. B. Bavdekar, M. N. Muranjan, R. C. Parmar   +6 more
core   +1 more source

Programmable Hydrogels: Frontiers in Dynamic Closed‐Loop Systems, Biomimetic Synergy, and Clinical Translation

Advanced Science, Volume 12, Issue 47, December 18, 2025.
This review summarizes the design principles and key features of programmable hydrogels that respond to multiple stimuli. It then delves into the cutting‐edge mechanisms of self‐executing systems, highlighting their role as the cornerstone of next‐generation programmable hydrogels (NGPHs).
Guangli Xiang, Bohan Yin, Behzad Shiroud Heidari, George Youssef, Monika Gosecka, Mateusz Gosecki, Fernando G. Torres, Siu Hong Dexter Wong, Jagan Mohan Dodda   +8 more
wiley   +1 more source

Everolimus therapy in an infant with Noonan syndrome with multiple lentigines

Annals of Pediatric Cardiology
RASopathies are the most common underlying etiology in infants with hypertrophic cardiomyopathy. An improved understanding of the downstream molecular mechanisms of the disease has enabled us to target therapy for genetic abnormalities in human cancers ...
Mani Ram Krishna, Usha Nandhini Sennaiyan   +1 more
doaj   +1 more source

Physiological Differences Underlying Divergent Hypoxia Responses and Altitude Adaptations in Humans, Rats and Mice

Comprehensive Physiology, Volume 15, Issue 6, December 2025.
Despite many physiological similarities, mice, rats and humans respond remarkably differently to hypoxia. In line with their high‐altitude phylogeographic history, mice are physiologically well equipped to deal better with high‐altitude hypoxia than humans, while the low‐land origin of rats may be associated with a particularly high vulnerability to ...
Johannes Burtscher, Robert T. Mallet, Anupam Sah, Max Gassmann, Martin Burtscher, Rodrigo Iturriaga   +5 more
wiley   +1 more source

Megafaunal Rodents: Behaviour and Ecological Roles of Southeast Asian Forest Porcupines

Ecology and Evolution, Volume 15, Issue 12, December 2025.
Southeast Asian porcupines (Malayan porcupine, Hystrix brachyura; brush‐tailed porcupine, Atherurus macrourus) performed at least four important ecological roles in a Malaysian rainforest. Burrows of both species were used in several ways by at least 22 animal species, while the soil above was potentially good sites for seedling recruitment. Porcupines
Kim R. McConkey, Alicia Solana Mena, Param bin Pura, Charang Muhamad Tauhid bin Tunil, Husin Sudin A/L Din, Lisa Ong, Ahimsa Campos‐Arceiz, Sean Eeshwaran Sinnaveeran, Sanjay D. Ramarao, Ee Phin Wong   +9 more
wiley   +1 more source

Roadless Areas in China: Dynamic Patterns and Conservation Implications

Earth's Future, Volume 13, Issue 12, December 2025.
Abstract Expanding public transportation and conserving biodiversity are two major components of the United Nations Sustainable Development Goals. However, these objectives often conflict, as habitat loss and fragmentation caused by transportation networks and subsequent development are regarded as significant threats to biodiversity.
Xinyue Fan, Weihua Xu, Mei Han, Li An, Jingjing Zhang, Zhiyun Ouyang   +5 more
wiley   +1 more source

Syndrome LEOPARD et carcinome épidermoïde labial : présentation d’un cas

, 2012
Le syndrome LEOPARD est une maladie héréditaire rare décrite pour la première fois par Zeisler et Becker en 1936. En 1969, Gorlin et al. ont proposé l’acronyme LEOPARD former à partir des différentes manifestations : L pour lentigines ou taches ...
Fatma Bouzouina, Amina Nouria Tabeti-Hamza, Chérifa Faïza Tabeti-Bentahar   +2 more
core   +1 more source