Results 61 to 70 of about 178,919 (265)

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

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin, Yao Xiao, Shuangzi Luo, Yifan Li, Wenfei Zhang, Xiaoyu Zhang, Xinyi Wang, Di Wu, Jieru Hong, Yongkun Luan, Xun Huang, Yixiu Wang, Ningbo Wu, Xiaoxiao Hu, Fei Zhao, Wei Li, Xiao Luo, Bi Shi   +17 more
wiley   +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

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +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

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

Long Noncoding RNAs in Aortic Dissection: Mechanistic Roles and Therapeutic Potential

AGING MEDICINE, EarlyView.
Aortic dissection (AD) involves vascular inflammation, VSMC dysfunction, and ECM degradation. LncRNAs regulate AD progression via ceRNA networks, with great potential as diagnostic biomarkers and therapeutic targets, while further clinical validation is needed.
Chao Chang, Yongrong Lan, Zhenhua Wu, Jie Geng, Zhigang Guo, Qingliang Chen   +5 more
wiley   +1 more source

Amelogenesis Imperfecta - An account of Three Generations affected in a Family

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Amelogenesis Imperfecta is a hereditary condition affecting dental enamel without any systemic manifestation. This condition can be inherited as either Autosomal or X-linked.
G Sarat, Arindam Sarkar, S Suhas, Keerthilatha M Pail   +3 more
doaj  

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Autosomal dominant intellectual disability [PDF]

Medizinische Genetik, 2018
Abstract Intellectual disability (ID) is a heterogeneous entity defined as a substantial impairment of cognitive and adaptive function with an onset in early childhood and an IQ measure of less than 70. During the last few years, the next generation technologies, namely whole exome (WES) and whole genome ...
openaire   +2 more sources