scholarly journals More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A

2021 ◽  
Author(s):  
Caroline Caetano da Silva ◽  
Manon Ricquebourg ◽  
Philippe Orcel ◽  
Stéphanie Fabre ◽  
Thomas Funck‐Brentano ◽  
...  
Keyword(s):  
Early Onset ◽  
Severe Phenotype ◽  
Recessive Form

scholarly journals Rs1h−/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation

Gene Therapy ◽  
2021 ◽  
Author(s):  
Yong Zeng ◽  
Haohua Qian ◽  
Maria Mercedes Campos ◽  
Yichao Li ◽  
Camasamudram Vijayasarathy ◽  
...  
Keyword(s):  
Rat Model ◽  
Early Onset ◽  
Photoreceptor Cell ◽  
Bipolar Cells ◽  
Subretinal Space ◽  
Severe Phenotype ◽  
Juvenile Retinoschisis ◽  
Normal Human ◽  
Retinal Structure ◽  
Underlying Mechanisms

AbstractAnimal models of X-linked juvenile retinoschisis (XLRS) are valuable tools for understanding basic biochemical function of retinoschisin (RS1) protein and to investigate outcomes of preclinical efficacy and toxicity studies. In order to work with an eye larger than mouse, we generated and characterized an Rs1h−/y knockout rat model created by removing exon 3. This rat model expresses no normal RS1 protein. The model shares features of an early onset and more severe phenotype of human XLRS. The morphologic pathology includes schisis cavities at postnatal day 15 (p15), photoreceptors that are misplaced into the subretinal space and OPL, and a reduction of photoreceptor cell numbers by p21. By 6 mo age only 1–3 rows of photoreceptors nuclei remain, and the inner/outer segment layers and the OPL shows major changes. Electroretinogram recordings show functional loss with considerable reduction of both the a-wave and b-wave by p28, indicating early age loss and dysfunction of photoreceptors. The ratio of b-/a-wave amplitudes indicates impaired synaptic transmission to bipolar cells in addition. Supplementing the Rs1h−/y exon3-del retina with normal human RS1 protein using AAV8-RS1 delivery improved the retinal structure. This Rs1h−/y rat model provides a further tool to explore underlying mechanisms of XLRS pathology and to evaluate therapeutic intervention for the XLRS condition.

Early onset lymphoedema, recessive form ? a new form of genetic lymphoedema syndrome

1986 ◽  
Vol 145 (3) ◽  
pp. 195-198 ◽  
Author(s):  
J. M�cke ◽  
W. Hoepffner ◽  
G. Scheerschmidt ◽  
H. Gornig ◽  
K. Beyreiss
Keyword(s):  
Early Onset ◽  
Recessive Form ◽  
New Form

Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A

2021 ◽  
Author(s):  
C. Majorel-Beraud ◽  
E. Baudou ◽  
U. Walther-Louvier ◽  
C. Espil-Taris ◽  
P. Beze-Beyrie ◽  
...  
Keyword(s):  
Early Onset ◽  
Pediatric Population ◽  
Genetic Diagnosis ◽  
Disease Type ◽  
Severe Phenotype ◽  
Mitofusin 2 ◽  
Motor Autonomy ◽  
Onset Group ◽  
Early Onset Group ◽  
New Mutations

AbstractCharcot–Marie–Tooth's disease type 2A (MCT2A), induced by mutation of the mitofusin 2 (MFN2) gene represents the main cause of MCT2. The aim of this study is to provide details of the clinical and electromyographic phenotype of MCT2A in a pediatric population. We conducted a French multicenter retrospective study, including all children with a genetic diagnosis of MCT2A. Thirteen MCT2A children were included with a beginning of symptoms before the age of 10 years (“early-onset group”). We report two new mutations: c.1070 A → T (p.Lys357.Met) and c.280 C → G (p.Arg94Gly). The evolution of the disease is marked by a fast worsening for three patients with loss of motor autonomy, while the evolution is relatively stable for eight patients. The group of early-onset MCT2A seems more heterogeneous than previously described, with a nonconstant severe phenotype.

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

2001 ◽  
Vol 28 (1) ◽  
pp. 89-93 ◽  
Author(s):  
J. R. Garcia-Lozano ◽  
M. F. Gonzalez-Escribano ◽  
A. Valenzuela ◽  
A. Garcia ◽  
A. Nunez-Roldan
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Early Onset

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures

2000 ◽  
Vol 42 (11) ◽  
pp. 756-759 ◽  
Author(s):  
Uri Kramer ◽  
Esther Kahana ◽  
Zamir Shorer ◽  
Bruria Ben-Zeev
Keyword(s):  
Early Onset ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome
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