Results 221 to 230 of about 109,513 (348)

Non-Mendelian inheritance of DNA sequence information in Arabidopsis

Developmental Biology, 2006
Susan J. Lolle, Robert E. Pruitt
openaire   +2 more sources

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, EarlyView.
ABSTRACTAimType II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

Endocrine Abnormalities and Growth Pattern in Single Large‐Scale Mitochondrial DNA Deletion Syndromes

Acta Paediatrica, EarlyView.
ABSTRACT Aim To assess the prevalence of endocrine disorders and investigate growth patterns in single large‐scale mitochondrial DNA deletion syndromes (SLSMDs). Methods A retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.
Ayman Daka, Einat Lahav, Omer Bar Yosef, Yoav Bolkier, Yael Levy‐Shraga, Yair Anikster, Elad Jacoby, Noah Gruber   +7 more
wiley   +1 more source

Does the highly prevalent East Asian ALDH2 null variant magnify adverse effects of prenatal alcohol exposure on child development? A commentary

Alcohol, Clinical and Experimental Research, EarlyView.
Chloe Slaney, George Davey Smith
wiley   +1 more source

Datasheets for the manuscript: The contribution of an X chromosome QTL to non-Mendelian inheritance and unequal chromosomal segregation in A. freiburgense

, 2023
André Pires‐daSilva
openalex   +2 more sources

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Clinical Genetics, EarlyView.
Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici, Elif Sibel Aslan, Murat Karapapak, Savas Barıs, Recep Eroz   +7 more
wiley   +1 more source

Causal Associations Between Chronic Spontaneous Urticaria and Thyroid Function Indicators on Different Ethnic Groups: A Bidirectional Two‐Sample Mendelian Randomization Analysis

Allergy, EarlyView.
Lijun Deng, Yuxu Yao, Zhenzhong Lu, Ping Xia, Tingting Yu, Hui Shen, Jiang Ji, Qingqing Jiao   +7 more
wiley   +1 more source

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

Developmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale, Shekeeb Mohammad, Velda X. Han, Hiroya Nishida, Himanshu Goel, Stuart G. Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel, Chromatin Immune‐Brain Group, Michael Lonergan, Melanie Wong, Kavitha Kothur, Erica Tsang   +14 more
wiley   +1 more source

Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies

Epilepsia, EarlyView.
Abstract Objective Although previous research shows that generalized and focal epilepsies have at least some distinct genetic influences, it remains uncertain why some families manifest both types of epilepsy. We tested two hypotheses: (1) families with both generalized and focal epilepsy carry separate risk alleles for both types; and (2) within mixed
Colin A. Ellis, Ruth Ottman, Michael P. Epstein, Epi4K Consortium, Samuel F. Berkovic, Karen L. Oliver   +5 more
wiley   +1 more source

Family ties in Star Wars: Is Force-sensitivity a matter of non-Mendelian inheritance? [PDF]

, 2020
Ronan M. G. Berg
openalex   +1 more source