Results 71 to 80 of about 109,513 (348)

The infinitesimal model with dominance [PDF]

, 2022
The classical infinitesimal model is a simple and robust model for the inheritance of quantitative traits. In this model, a quantitative trait is expressed as the sum of a genetic and a non-genetic (environmental) component and the genetic component of ...
Barton, N. H., Etheridge, A. M., Véber, A.   +2 more
core   +4 more sources

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022
Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng‐Yu Fan, Yin‐Li Zhang, Songying Zhang   +6 more
wiley   +1 more source

Meiotic drive in chronic lymphocytic leukemia compared with other malignant blood disorders

Scientific Reports, 2022
The heredity of the malignant blood disorders, leukemias, lymphomas and myeloma, has so far been largely unknown. The present study comprises genealogical investigations of one hundred and twelve Scandinavian families with unrelated parents and two or ...
Viggo Jønsson, Haneef Awan, Neil Deaton Jones, Tom Børge Johannesen, Klaus Thøgersen, Bjarni á Steig, Gudrid Andorsdottir, Geir Erland Tjønnfjord   +7 more
doaj   +1 more source

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022
Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, Konrad Platzer, Bernt Popp, Rami Abou Jamra   +5 more
wiley   +1 more source

Delayed development induced by toxicity to the host can be inherited by a bacterial-dependent, transgenerational effect

Frontiers in Genetics, 2014
Commensal gut bacteria in many species including flies are integral part of their host, and are known to influence its development and homeostasis within generation.
Yael eFridmann-Sirkis, Shay eStern, Michael eElgart, Matana eGalili, Amit eZeisel, Noam eShental, Yoav eSoen   +6 more
doaj   +1 more source

Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene [PDF]

, 2014
In this paper we described the first Polish patient with ferroportin disease. Hereditary haemochromatosis (HH) is a condition associated with universal iron overload, and it is divided into four types, according to the Online Mendelian Inheritance in Man
Caleffi, Angela, Milkiewicz, Piotr, PIETRANGELO, Antonello, Raszeja Wyszomirska, Joanna   +3 more
core   +1 more source

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source

Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis

Human Mutation, Volume 43, Issue 12, Page 2091-2101, December 2022., 2022
Abstract The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly appreciated. Monogenic disorders associated with IPF affect two pathways: telomere maintenance, accounting for approximately 10% of all patients with IPF, and surfactant biology, responsible for 1%–3% of cases and often co‐occurring with lung ...
Rachel M. Sutton, Humberto Trejo Bittar, Daniel I. Sullivan, Agustin Gil Silva, Harinath Bahudhanapati, Anishka H. Parikh, Yingze Zhang, Kevin Gibson, John F. McDyer, Daniel J. Kass, Jonathan K. Alder   +10 more
wiley   +1 more source

The Role of Heredity and the Prevalence of Strabismus in Families with Accommodative, Partial Accommodative, and Infantile Esotropia

Türk Oftalmoloji Dergisi, 2020
Objectives:To investigate the prevalence of strabismus in families of a proband with accommodative, partial accommodative, or infantile esotropia (IET), and to evaluate the mode of inheritance and the role of consanguineous marriages in this prevalence ...
Fatma Çorak Eroğlu, Sibel Oto, Feride İffet Şahin, Yunus Terzi, Özge Özer Kaya, Mustafa Agah Tekindal   +5 more
doaj   +1 more source

Complex segregation analysis of pedigrees from the Gilda Radner Familial Ovarian Cancer Registry reveals evidence for mendelian dominant inheritance. [PDF]

PLoS ONE, 2009
BACKGROUND:Familial component is estimated to account for about 10% of ovarian cancer. However, the mode of inheritance of ovarian cancer remains poorly understood.
Bamidele O Tayo, Richard A DiCioccio, Yulan Liang, Maurizio Trevisan, Richard S Cooper, Shashikant Lele, Lara Sucheston, Steven M Piver, Kunle Odunsi   +8 more
doaj   +1 more source