Results 61 to 70 of about 13,071 (247)

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Molecular Genetics & Genomic Medicine, 2019
Background 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported.
Weicheng Chen, Xiaodi Li, Liqun Sun, Wei Sheng, Guoying Huang   +4 more
doaj   +1 more source

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism [PDF]

Revista Brasileira de Ginecologia e Obstetrícia, 2018
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings.
Joanna Goes Castro Meira, Manoel Alfredo Curvelo Sarno, Ágatha Cristhina Oliveira Faria, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Gabriela Gayer Scheibler, Dione Fernandes Tavares, Angelina Xavier Acosta   +7 more
doaj   +1 more source

Hexagonal Boron Nitride on Liquid and Single‐Crystal Copper: Operando X‐Ray and Atomistic Insights into Growth and Interfacial Structure

Advanced Science, EarlyView.
Liquid metal catalysts are widely assumed to promote high‐quality 2D growth. In this work, operando experiments and machine‐learning‐accelerated simulations show that hBN on Cu breaks this graphene‐derived expectation, where molten Cu promotes multilayer/3D growth, but re‐solidified single‐crystal Cu stabilizes monolayer formation.
Nikoo Ghanadan, Valentina Rein, Hao Gao, Egor Bersenev, Thomas Sarrazin, Manmeet Kaur Sodhi, Bárbara Canto, Irina Snigireva, Nicolas Gauthier, Anastasios C. Manikas, Costas Galiotis, Maciej Jankowski, Gilles Renaud, Athanasios Dimoulas, Karsten Reuter, Oleg Konovalov, Hendrik H. Heenen, Irene M.N. Groot   +17 more
wiley   +1 more source

Longitudinal Single‐Axon‐Resolution Imaging of Peripheral Nerve Injury Response in Mice Using an Optical Window Implant

Advanced Science, EarlyView.
A minimally invasive optical window enables stable, long‐term imaging of peripheral nerves in vivo at single‐axon resolution. Dynamic processes of degeneration, regeneration, and cellular remodeling are visualized across multiple time scales within the same nerve region, providing a unique platform to study a variety of anatomical and molecular events ...
Igor D. Luzhansky, Emma Anisman, Ron Perez, Sophia Zhang, Morgan Hoffman, Daniel Hunter, Abigail Cherian, Jevon Bonner, Emilia Feria, Ahmed Ahmed, Muneeb Malik, Junwei Du, Leland C. Sudlow, David M. Brogan, Matthew D. Wood, Mikhail Y. Berezin   +15 more
wiley   +1 more source

First report of ATP2A2 somatic mosaicism occurring during embryogenesis in transient acantholytic dermatosis

JEADV Clinical Practice
Transient acantholytic dermatosis (TAD) is a relatively common skin disease that typically affects older individuals, which shows clinical and histologic similarities to autosomal dominant Darier disease.
Emi Hiromatsu, Toshifumi Abe, Kwesi Teye, Hiroshi Koga, Norito Ishii, Takahiro Hamada, Takekuni Nakama   +6 more
doaj   +1 more source

Metal Battery Anode: Rich in Electrons, Rich in Problems: A Critical Review from Industrial Perspectives

Advanced Science, EarlyView.
Metal‐anode batteries using Li, Na, Mg, and Ca offer exceptionally high energy density, but dendrites, unstable interphases, cracking, and pore formation hinder durability and safety. This review shows how careful electrolyte and interphase design can stabilize these reactive metals.
Jian Pan, Chan Shu, Oscar Tutusaus, Rana Mohtadi   +3 more
wiley   +1 more source

The paradigm of somatic mosaicism in complex diseases

Вавиловский журнал генетики и селекции
The multifactorial etiology of complex diseases involves the interplay of polygenic/oligogenic susceptibility loci and environmental factors. Complex diseases are characterized by pronounced phenotypic variability, genetic heterogeneity, pleiotropy of ...
A. A. Sleptcov, M. S. Nazarenko, V. P. Puzyrev   +2 more
doaj   +1 more source

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

BMC Medical Genetics, 2018
Background Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability.
Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo   +11 more
doaj   +1 more source

NSD2 Coordinates the Neurogenic‐to‐Gliogenic Transition via H3K36me2‐Dependent Activation of the EGFR‐ERK Pathway

Advanced Science, EarlyView.
NSD2 coordinates the neurogenic‐to‐gliogenic transition in the developing neocortex through H3K36me2‐dependent activation of EGFR–ERK signaling. Loss of NSD2 disrupts astroglial and oligodendroglial development, whereas ERK activation rescues gliogenic defects in vitro and in vivo.
Hanxue Chen, Mengyuan Li, Lin Hou, Bin Yin, Boqin Qiang, Ran Gao, Pengcheng Shu, Xiaozhong Peng   +7 more
wiley   +1 more source