Results 61 to 70 of about 1,618 (169)
CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population [PDF]
, 2018 Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene.
Carmo Macário, Maria do +16 more
core +1 more source
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Nefrología (English Edition), 2015 Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat +5 more
doaj +3 more sources
Molecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020 Nonimmunological hydrops fetalis (NIHF) is still a challenging diagnosis. The success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. We report a premature with NIHF. The hydrops panel revealed Noonan syndrome (NS) with a mutation in PTPN11 c.218C>T (p.Thr73Ile).
Mascha Schönfeld +6 more
wiley +1 more source
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
BMC Nephrology, 2017 Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi +5 more
doaj +1 more source
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Neurological impairment in nephropathic cystinosis: motor coordination deficits [PDF]
, 2010 Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein.
Ballantyne, Angela O. +5 more
core +2 more sources
Blocking myostatin: muscle mass equals muscle strength?
, 2020 Journal of Cachexia, Sarcopenia and Muscle, Volume 11, Issue 6, Page 1396-1398, December 2020.
Markus S. Anker +2 more
wiley +1 more source
Clinical and Translational Science, Volume 18, Issue 4, April 2025.ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed +9 more
wiley +1 more source
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
The Scientific World Journal, Volume 2015, Issue 1, 2015., 2015 Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However,
Yong-jia Yang +11 more
wiley +1 more source
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis [PDF]
, 2021 Cystinosis is an inherited metabolic disorder caused by autosomal recessive mutations in the CTNS gene leading to lysosomal cystine accumulation.
Albersen, Maarten +19 more
core +2 more sources