Results 71 to 80 of about 1,225,648 (255)

Autosomal dominant multicentric infantile myofibromatosis: A case report

Pediatric Hematology Oncology Journal
Background: Infantile myofibromatosis (IM) is a rare disorder of benign fibrous tumors, where severity and prognosis depend on the location of tumors, particularly if visceral organs are affected. Most cases of IM are sporadic.
Jessica Justus Kurian, Megan R. Lyle
doaj   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
core  

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

, 2013
This article is free to read on the publishers website\ud \ud In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past
Sparrow, Duncan B., Leo, Paul J., Duncan, Emma L., Chapman, Deborah L., Brown, Matthew A., McInerney-Leo, Aideen, Gardiner, Brooke, Gucev, Zoran S., Marshall, Mhairi, Dunwoodie, Sally L., Shishko, Abduhadi, Tasic, Velibor   +11 more
core   +1 more source

Categories of Cutaneous Mosaicism

JEADV Clinical Practice
In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant ...
Rudolf Happle
doaj   +1 more source

Huntingtin Aggregate‐Responsive Autophagy Gene Circuit Mitigates Disease Pathology in R6/2 Mice

Advanced Science, EarlyView.
CD98‐mediated receptor‐mediated transcytosis enables LIP‐CD98 nanocarriers to cross the blood–brain barrier and deliver ARAA to neurons. mHTT aggregates activate the 11G–NarX sensor, initiating Auto‐P and Trans‐P signaling through the VP48–NarL relay.
Jie Zhu, Xi‐xiu Xie, Lei Li, Chen Tian, Hao‐tian Wang, Xiao‐jie Wang, Xiao‐lin Yu, Gui‐feng Zhang, Rui‐tian Liu   +8 more
wiley   +1 more source

Ultrafast Micrometric Laser Structuring of Polymer Surfaces for Highly Organized Skeletal Muscle Tissue Modeling

Advanced Science, EarlyView.
Standard cell culture supports were functionalized by laser‐structuring to generate advanced topographies tailored to skeletal muscle tissue. The physicochemical modifications of the polymeric surfaces and their interactions with cells were thoroughly investigated, confirming both safety and effectiveness in guiding muscle cell organization.
Lucas Duvert, Lorena Garcia‐Castillo, Clarissa Murru, Adrien Casanova, Daniel Ferry, Pierre Perrin, Solene Coste, Anne Bigot, Anne‐Patricia Alloncle, Frederique Magdinier, Stefano Testa   +10 more
wiley   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +1 more source

Gapless Complete Genome and Multi‐Omics Illuminate Immune Adaptation and Host‐Virus Interactions in a Coronavirus Reservoir

Advanced Science, EarlyView.
We present a complete T2T genome assembly for a key bat reservoir. Integrating population genomics, comparative genomics, transcriptomics, single‐cell omics, and functional assays, we resolve previously inaccessible genomic regions and identify evolutionary signatures associated with immune adaptation.
Yuting Wang, Sheng Zhang, Linxia Ouyang, Xin Du, Xin Huang, Zhilin Wang, Huixian Xie, Jiale Tang, Liyi Lou, Wenqing Ling, Weihao Wang, Jiang Zhou, Zhen Liu, Yibo Hu, Fuwen Wei, Guangping Huang   +15 more
wiley   +1 more source