... Inherited Bone Marrow Failure Syndromes (IBMFS) are a diverse group of genetic disorders characterized by insufficient hematopoietic cell production due to blood stem cell dysfunction. The most common syndromes are Fanconi Anemia, Diamond-Blackfan Anemia, and Shwachman-Diamond Syndrome. These conditions...

...:https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract Inherited erythromelalgia, small fiber neuropathy and paroxysmal extreme pain disorder are caused by gain-of-function mutations in the voltage gated sodium channel Nav1.7. How different mutations in the same channel enhancing electrogenesis...

... disease. Transcatheter procedures may be an option, and a multidisciplinary approach to planning and hybrid management strategies can optimize outcomes in similar patients. Case report Aortic valve Genetic disorders Inherited metabolic disorders Valve replacement Abstract Background Morquio...

... of inheritance and potential allelic and phenotypic heterogeneity have also been reported. The variant c.91A > G, p.(Thr31Ala) was found in a father and son with retinal dystrophy; however, the son also had another more common variant in trans, c.353G > T, p.(Cys118Phe), and an earlier onset...

.... The scope for novel therapeutics for this group of devastating conditions is enormous; however, several challenges remain to be overcome before hopes of curative treatments can be brought into clinical practice. Graphical Abstract Graphical Abstract primary mitochondrial disease maternally inherited...

... eradicate the disease from this breed. Retinopathy with vitamin E deficiency (RVED) is an inherited disease in the English Cocker Spaniel that causes blindness and ataxia. It has many similarities to ataxia with vitamin E deficiency (AVED) in humans. This study investigated the genetic basis of RVED...

... on our site—for further information please contact [email protected]. Abstract Aims Little is known about the distribution and clinical course of patients with inherited arrhythmia syndrome (IAS) and concomitant atrial arrhythmias (AAs). The aim of the study is (i) to characterize...

.../00109 FEDER 10.13039/501100002924 RD16/0009 PI22/00361 202036 ERA 10.13039/100015682 European Society for Paediatric Nephrology ABSTRACT Background Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are causes of kidney failure...

...Jayakrishnan C Menon; Nachiketa Parmar; Kausik Mandal; Prabhaker Yadav; Rajanikant Yadav; Subhash Yadav Multifocal osteonecrosis (MFON) low bone mass heterozygous protein S deficiency inherited thrombophilia PROS1 Osteonecrosis is a degenerative condition secondary to interruption...

... to develop therapies to modulate or correct their molecular substrates. In this review we examine the latest advancements in cardiac gene therapy, discussing the pros and cons of different molecular approaches and delivery vectors, with a focus on their therapeutic application in cardiac inherited diseases...

.../100000002 EY025291 EY033808 EY029817 Oakland University Center for Biomedical Research Excellence Fund Mutations in PRPH2 trigger inherited retinal degenerations (IRDs) that are amongst the most common (3%–4.6%) [ 1 , 2 ] and clinically heterogeneous [ 3 ] reported for genes causing non...

...Ivan Zeljkovic; Anaïs Gauthey; Martin Manninger; Katarzyna Malaczynska-Rajpold; Jacob Tfelt-Hansen; Lia Crotti; Elijah R Behr; Federico Migliore; Arthur Wilde; Julian Chun; Giulio Conte Graphical Abstract Graphical Abstract Sudden cardiac death Inherited arrhythmogenic diseases Inherited...

... understanding and interdisciplinary management of affected persons. The intricate interplay between genetic variants, molecular pathways, and systemic interactions underscores the importance of exploring the extrarenal aspects of inherited kidney diseases. This exploration not only deepens our comprehension...

... the question if their centre offered ECS to gamete donors and 62.4% (53/85) of those respondents confirmed such testing was offered in their centre ( Fig. 3D ). carrier screening assisted reproduction genetic testing inherited disease genetic disorder congenital abnormalities Carrier screening aims...

...Robert Cook-Deegan; Janis Geary; Kara Hapke; Zuzana Skvarkova; Marina Filipek; Jillian Leaver Abstract Genetic testing for inherited cancer risk changed dramatically when the US Supreme Court handed down unanimous rulings in Mayo v. Prometheus (2012) and Myriad v. Association...

... University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) human herpesvirus-6 (HHV-6) transplantation inherited chromosomally integrated human herpesvirus-6 (iciHHV-6) (See the Major Article by Hannolainen et al on pages e267–76...

...://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background The implications of inherited chromosomally integrated human herpesvirus 6 (iciHHV-6) in solid organ transplantation remain...

... is caused by inherited heart disease, especially among the young. An autopsy is crucial to establish a diagnosis of inherited heart disease, allowing for subsequent identification of family members who require cardiac evaluation. Autopsy of cases of unexplained sudden death in the young is recommended...

... 1 Benchmarking variant classifier performance split by IRD inheritance pattern. Numbers in brackets represent AUC scores. Classifiers are ordered from highest to lowest AUC score. A full list of all classifiers tested can be found in Supplemental Table 1 . Classifier Performance [AUC...

..., transoesophageal echocardiography and CMR. Those at the highest risk may need implantable cardioverter defibrillator implantation, and select patients with inherited arrhythmia syndromes or cardiomyopathies may benefit from catheter ablation. Heart failure management and consideration of cardiac transplantation...