Four decades of carrier detection and prenatal diagnosis in hemophilia A: historical overview, state of the art and future directions
R Dardik, S Janczar, S Lalezari, E Avishai… - International Journal of …, 2023 - mdpi.com
Hemophilia A (HA), a rare recessive X-linked bleeding disorder, is caused by either
deficiency or dysfunction of coagulation factor VIII (FVIII) resulting from deleterious mutations …
deficiency or dysfunction of coagulation factor VIII (FVIII) resulting from deleterious mutations …
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
A Matsumoto, S Kano, N Kobayashi, M Matsuki… - Scientific Reports, 2024 - nature.com
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the
ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old …
ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old …
[HTML][HTML] Preoperative diagnosis and management of inherited bleeding disorders in female adolescents and adults
RD Wilson - Canadian Journal of Surgery, 2023 - ncbi.nlm.nih.gov
METHODS A scoping review methodology was used. The review was focused primarily on
IBDs in adolescent and adult females and pregnant people with vWD, hemophilia A and B …
IBDs in adolescent and adult females and pregnant people with vWD, hemophilia A and B …
Real-time observation of “soft” magic-size clusters during hydrolysis of the model metallodrug bismuth disalicylate
Colloidal bismuth therapeutics have been used for hundreds of years, yet remain
mysterious. Here we report an X-ray pair distribution function (PDF) study of the solvolysis of …
mysterious. Here we report an X-ray pair distribution function (PDF) study of the solvolysis of …
Creatine Kinase-MM/Proto-oncogene Tyrosine-Protein Kinase Receptor as a Sensitive Indicator for Duchenne Muscular Dystrophy Carriers
Z Zhang, D Hong, D Ma, P Yang, J Zhang… - Molecular …, 2024 - Springer
Duchenne muscular dystrophy (DMD), a lethal X-linked recessive genetic disease, is
characterized by progressive muscle wasting which will lead to premature death by …
characterized by progressive muscle wasting which will lead to premature death by …
[PDF][PDF] Optical genome mapping identified deletions, inversions, and insertions in hemophilia
B Liu, L Zhou, L Cao, L Haoning, L Tong… - Blood …, 2024 - ashpublications.org
Hemophilia A and B are two genetic bleeding disorders caused by variants in the F8 and F9
genes, respectively. These genes, located at the end of the long arm of the X chromosome …
genes, respectively. These genes, located at the end of the long arm of the X chromosome …
[HTML][HTML] Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes
YX Ma, Y Li, J Sun, Q Liang, R Wu… - Thrombosis and …, 2024 - thieme-connect.com
Background Factor IX (FIX) plays a critical role in blood coagulation. Complete deletion of F9
results in severe hemophilia B, whereas the clinical implications of complete F9 duplication …
results in severe hemophilia B, whereas the clinical implications of complete F9 duplication …
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression
BM Ziegler, MM Abelleyro, VD Marchione… - Journal of Medical …, 2024 - jmg.bmj.com
Background Exploring the expression of X linked disorders like haemophilia A (HA) in
females involves understanding the balance achieved through X chromosome inactivation …
females involves understanding the balance achieved through X chromosome inactivation …
Skewed X-chromosome inactivation and parental gonadal mosaicism are implicated in X-linked recessive female hemophilia patients
MC Shen, SP Chang, DJ Lee, WH Lin, M Chen, GC Ma - Diagnostics, 2022 - mdpi.com
Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly
affect males born from a mother carrier. Females are rarely affected but a number of …
affect males born from a mother carrier. Females are rarely affected but a number of …
[HTML][HTML] Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
C Olivati, BP Favilla, EL Freitas, B Santos… - Molecular Genetics and …, 2022 - Elsevier
Abstract Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor
developmental delay/intellectual disability, neurological impairment with a movement …
developmental delay/intellectual disability, neurological impairment with a movement …