Results 71 to 80 of about 6,623 (164)

Variant Prioritization by Pedigree‐Based Haplotyping

Genetic Epidemiology, Volume 50, Issue 3, April 2026.
ABSTRACT Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non‐coding regions, is a challenge.
Rafael A. Nafikov, Harkirat K. Sohi, Alejandro Q. Nato Jr., Andrea R. Horimoto, Tyler R. C. Day, Thomas D. Bird, Anita L. DeStefano, Elizabeth E. Blue, Ellen M. Wijsman   +8 more
wiley   +1 more source

Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah

Tikrit Journal of Pure Science, 2019
Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease.
Hadeel A. Abdel-Razaak Al-daraji, Akeel H. Ali Al-Assie, Rada H. Hussien   +2 more
doaj   +1 more source

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann‐Pick Disease Type C

Journal of Extracellular Biology, Volume 5, Issue 4, April 2026.
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare neurodegenerative disease primarily caused by mutations in the NPC1 gene, which is associated with cholesterol trafficking impairment, and disruption of endolysosomal processing and extracellular vesicles (EVs).
Sarah Catherine BB Hawthorne, Ursula S Sandau, Trevor J McFarland, Elizabeth Berry‐Kravis, Julie A Saugstad   +4 more
wiley   +1 more source

Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan, Ezgi Erbasan, Fulya Erendor, Salih Sanlioglu   +3 more
wiley   +1 more source

A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

Molecular Genetics & Genomic Medicine
Background Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder.
Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee   +4 more
doaj   +1 more source

Achieving the impossible: effective reduction of low-density lipoprotein cholesterol (LDL-C) in a patient with homozygous familial hypercholesterolemia

Endokrynologia Polska
Not required for Clinical Vignette.
Mateusz Maligłówka, Aleksandra Sojka, Adrianna Dec, Bogusław Okopień, Łukasz Bułdak   +4 more
doaj   +1 more source

"Therapy with Lomitapide in Homozygous Familial Hypercholesterolemia"

, 2022
reservedBACKGROUND: l’ipercolesterolemia familiare omozigote (HoFH) è una patologia rara, pericolosa per la vita, caratterizzata da livelli molto elevati di colesterolo LDL e da malattia aterosclerotica cardiovascolare (ACVD) precoce e in rapida ...
TOSIN, PAOLA
core  

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 606-618, March 2026.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation

, 2007
Mutations within the low density lipoprotein (LDL)-receptor gene result in familial hypercholesterolemia, an autosomal dominant inherited disease.
Oldhafer, Karl, Jürgen Klempnauer, Buettner, Janine, Hannelore Barg-Hock, Schmidt, Hartmut H-J., Uwe J.F. Tietge, Kallfelz, Hans C., Dedoussis, Giorgos V., Rodeck, Burkhard, Tietge, Uwe J.F., Gisela Offner, Giorgos V. Dedoussis, Burkhard Rodeck, Klempnauer, Jürgen, Hartmut H-J. Schmidt, Schmidt, Hartmut H‐J., Schweitzer, Susanne, Janine Buettner, Schlitt, Hans‐Jürgen, Schlitt, Hans-Juergen, Barg‐Hock, Hannelore, Offner, Gisela, Hans-Jürgen Schlitt, Hans C. Kallfelz, Tietge, Uwe J. F., Klempnauer, Juergen, Susanne Schweitzer, Karl Oldhafer, Barg-Hock, Hannelore   +28 more
core   +1 more source

Advances in Lipid-Lowering Therapy for Homozygous Familial Hypercholesterolemia

罕见病研究
Homozygous familial hypercholesterolemia (HoFH) is an extremely rare and severe hereditary lipid metabolism disorder, characterized by markedly elevated levels of plasma low-density lipoprotein cholesterol (LDL-C), significantly increasing the risk of ...
LI Rui, TIAN Zhuang, ZHANG Shuyang
doaj   +1 more source