Results 131 to 140 of about 39,306 (313)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The prince and the butterfly [PDF]

Nature Biotechnology, 1999
openaire   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Recent advances in the construction of humanized animal models and applications in translational medicine

Animal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source

Butterflies and the brain [PDF]

The Journal of Physiology, 2016
openaire   +2 more sources

Impact of the invasive ant Linepithema humile on native ant assemblages on the western slopes of Table Mountain and implications for ant-butterfly associations

, 2011
The Argentine Ant, Linepithema humile (Hymenoptera: Formicidae), is one of the world's most successful invasive species and invades undisturbed Fynbos habitats in South Africa, displacing native arthropod species and affecting interspecific associations.
Krahner, André
core  

Increase in the number of Endangered Butterfly species in Japan from 1991 to 2012 [PDF]

, 2014
We surveyed the changes in the numbers of endangered species of Japanese butterflies from 1991 to 2012 on the basis of the Red Data Book and the Red List published by the Ministry of Environment.
NAKAMURA, Hiroshi, KODA, Keiko
core  

Tratamientos de conservación preventiva de la colección de mariposas del Archivo Bonpland

Dominguezia
No ...
Oscar Victorio Rocca Ríos
doaj  

Butterfly effect [PDF]

Current Biology, 2010
openaire   +2 more sources

Butterflies

, 1910
Oil painting of butterflies above flowers, rocks, and water, against a blue ...
Redon, Odilon
core