Results 31 to 40 of about 554,004 (364)

ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease

bioRxiv, 2020
Viral genetic variants are widely known to influence disease progression among infected humans. Given the recent and rapid emergence of pandemic SARS-CoV-2 infection, the cause of COVID-19 disease, viral protein variants have attracted research interest.
W. Gibson, Daniel M. Evans, Jianghong An, Steven J. M. Jones   +3 more
semanticscholar   +1 more source

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

, 2022
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body ...
Bulanov, Nikolay, Filatova, Ekaterina, Alexey Moiseev, Victor Fomin, Moiseev, Alexey, Moiseev, Sergey, Germain, Dominique P., Ekaterina Filatova, Tao, Ekaterina, Dominique P. Germain, Ekaterina Tao, Fomin, Victor, Nikolay Bulanov, Sergey Moiseev   +13 more
core   +1 more source

Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting.

Metabolism: Clinical and Experimental, 2020
Phosphate is a cornerstone of several physiological pathways including skeletal development, bone mineralization, membrane composition, nucleotide structure, maintenance of plasma pH, and cellular signaling.
J. Bacchetta, C. Bardet, D. Prié
semanticscholar   +1 more source

Ethics in pre-ART genetics: a missed X-linked Menkes disease case

Journal of Assisted Reproduction and Genetics, 2023
AbstractAssisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize.
A.-M. A. Gerdes, L. Birk Møller, N. Horn   +2 more
openaire   +4 more sources

PRENATAL DIAGNOSIS [PDF]

Romanian Journal of Pediatrics, 2009
Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present:
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3

, 2021
Osteogenesis imperfecta (OI) represents a complex spectrum of genetic bone diseases that occur primarily due to mutations and deletions of the COL1A1 and COL1A2 genes.
Dalibor Krpan, Matišić, Vid, Antičević, Darko, Kristina Robinson, Petar Brlek, Primorac, Dragan, Swaroop Aradhya, Darko Antičević, Aradhya, Swaroop, Vid Matišić, Krpan, Dalibor, Vilim Molnar, Brlek, Petar, Robinson, Kristina, Molnar, Vilim, Dragan Primorac   +15 more
core   +1 more source

Modeling lethal X-linked genetic disorders in pigs with ensured fertility

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance The development of therapies for rare and intractable genetic disorders represents a significant unmet medical need. Disease model pigs characterized by physiological, anatomical, and pathogenetic similarities to humans allow translational ...
H. Matsunari, Masahito Watanabe, K. Nakano, S. Enosawa, K. Umeyama, A. Uchikura, S. Yashima, Toru Fukuda, N. Klymiuk, M. Kurome, B. Kessler, A. Wuensch, V. Zakhartchenko, E. Wolf, Y. Hanazono, Masaki Nagaya, A. Umezawa, H. Nakauchi, H. Nagashima   +18 more
semanticscholar   +1 more source

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder [PDF]

, 2022
For disorders with X-linked inheritance, variants may be transmitted through multiple generations of carrier females before an affected male is ascertained. Pathogenic RS1 variants exclusively cause X-linked retinoschisis (XLRS). While RS1 is constrained
Bin Guan, Catherine A. Cukras, Feng, Eric, Santa J. Tumminia, Ullah, Ehsan, Guan, Bin, Elizabeth Geena Woo, Ehsan Ullah, Tumminia, Santa J, Eric Feng, Turriff, Amy, Chelsea Bender, Paul A. Sieving, Robert B. Hufnagel, Amy Turriff, Sieving, Paul A, Cukras, Catherine A, Hufnagel, Robert B, Woo, Elizabeth Geena, Bender, Chelsea   +19 more
core   +1 more source

Effects of selection and mutation on epidemiology of X-linked genetic diseases

Mathematical Biosciences and Engineering, 2017
The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system. The model accounts for both de novo mutations (i.e., affected sibling born to unaffected parents) and selection (i.e., distinct fitness rates depending on individual's health conditions).
Verrilli, Francesca, NA, NA, Kebriaei, Hamed, Glielmo, Luigi, Corless, Martin, Del Vecchio, Carmen, NA, NA, NA, NA   +7 more
openaire   +6 more sources

Robust Genetic Analysis of the X-Linked Anophthalmic (Ie) Mouse [PDF]

, 2022
Anophthalmia (missing eye) describes a failure of early embryonic ocular development. Mutations in a relatively small set of genes account for 75% of bilateral anophthalmia cases, yet 25% of families currently are left without a molecular diagnosis. Here,
Jackson, Ian J., Ian R. Adams, Rainger, Joe, Hernandez Moran, Brianda A., Andrew S. Papanastasiou, Hernandez-Moran, Brianda A., Hemant Bengani, Papanastasiou, Andrew S., Bengani, Hemant, David R. FitzPatrick, Brianda A. Hernandez-Moran, Ian J. Jackson, Gautier, Philippe, Adams, David J., Graeme Grimes, Philippe Gautier, David J. Adams, David Parry, Alison Meynert, Trejo-Reveles, Violeta, Meynert, Alison M, Violeta Trejo-Reveles, Adams, Ian R., Margaret Keighren, Parry, David, Joe Rainger, Keighren, Margaret, Grimes, Graeme, FitzPatrick, David R., Meynert, Alison   +29 more
core   +1 more source