Results 101 to 110 of about 269,697 (252)

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

Human Genome Variation
Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance.
Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia   +9 more
doaj   +1 more source

A pilot study of the genotype and phenotype in Amelogenesis Imperfecta and Molar Incisor Hypomineralization [PDF]

, 2012
Background Enamel is an external layer of the crown, and its production can be affected by genetic, systemic or environmental causes Amelogenesis Imperfecta (AI) is an inherited defect of dental enamel, and can be autosomal dominant, recessive, x-linked ...
Abdullatif, MAA
core  

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Applicability of Neuropsychological and Psychometric Tests in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) [PDF]

, 2018
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ATSACS) is a degenerative spinocerebellar disease with pyramidal, cerebellar, and neuropathic impairments.
Bouchard, Julie, Boivin-Mercier, Allexe, Gagnon, Cynthia, Forgues, Geneviève, Brassard, Kevin   +4 more
core  

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 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

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

High‐throughput development and scale‐up of recombinant adeno‐associated virus 5 anion‐exchange chromatography for high‐purity capsid separation

Biotechnology Progress, EarlyView.
High‐throughput anion‐exchange chromatography process development enables scalable purification of high‐purity recombinant adeno‐associated virus capsids. Abstract Recombinant adeno‐associated virus (rAAV) production commonly yields a high proportion of empty and partially filled capsids, necessitating downstream purification to enrich full capsids ...
Kevin Vera, Ivan Gajic, Praveen Kusumanchi, Angela Andaluz, Gabrielle Dela Pena, Clifford A. Froelich, Elizabeth Higgins, Jennifer Johnston, Seyed Pouria Motevalian   +8 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source