Networks Underlie Temporal Onset of Dysplasia‐Related Epilepsy: A MELD Study
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26442
Abstract: The purpose of this study was to evaluate if focal cortical dysplasia (FCD) co‐localization to cortical functional networks is associated with the temporal distribution of epilepsy onset in FCD. read more here.
Keywords: underlie temporal; temporal onset; dysplasia; onset dysplasia ... See more keywords
Short-term and long-term effect of nutrition intervention in the Linxian Dysplasia Nutrition Intervention Trial and the reason for disappearance of the intervention effect: A cohort study.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer"
DOI: 10.1002/cncr.34761
Abstract: BACKGROUND The objective of this study was to determine the short-term and long-term effects of a nutrition intervention in using 37 years of follow-up data. METHODS The Linxian Dysplasia Population Nutrition Intervention Trial was a randomized,… read more here.
Keywords: nutrition intervention; effect; dysplasia; term ... See more keywords
Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12678
Abstract: Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery‐resistant focal epilepsy due to FCD type II who developed progressive… read more here.
Keywords: cause; cortical dysplasia; dysplasia; basal ganglia ... See more keywords
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24368
Abstract: BNIP1 (BCL2 interacting protein 1) is a soluble N‐ethylmaleimide‐sensitive factor‐attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients 1 and 2 with disproportionate… read more here.
Keywords: bnip1; epiphyseal dysplasia; increase; spondylo epiphyseal ... See more keywords
PPARgamma agonism inhibits progression of premalignant lesions in a murine lung squamous cell carcinoma model
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.34210
Abstract: The N‐nitroso‐trischloroethylurea (NTCU)‐induced mouse model of squamous lung carcinoma recapitulates human disease from premalignant dysplasia through invasive tumors, making it suitable for preclinical chemoprevention drug testing. Pioglitazone is a peroxisome proliferator‐activated receptor γ (PPARγ) agonist… read more here.
Keywords: cell; dysplasia; pioglitazone; agonism ... See more keywords
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3348
Abstract: Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric… read more here.
Keywords: variants plod2; pathogenic variants; bone; dysplasia ... See more keywords
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4639
Abstract: Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal… read more here.
Keywords: skeletal dysplasia; family; kif24 variants; dysplasia ... See more keywords
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4799
Abstract: Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up… read more here.
Keywords: skeletal dysplasia; dysplasia; related disorders; gazali skeletal ... See more keywords
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2004
Abstract: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long… read more here.
Keywords: dysplasia novel; novel genetic; genetic variant; dysplasia ... See more keywords
Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.379
Abstract: Dyssegmental dysplasia Silverman‐Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four… read more here.
Keywords: dyssegmental dysplasia; dysplasia silverman; dysplasia; silverman handmaker ... See more keywords
Validation of an outpatient questionnaire for bronchopulmonary dysplasia control
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26358
Abstract: Despite bronchopulmonary dysplasia (BPD) being a common morbidity of preterm birth, there is no validated objective tool to assess outpatient respiratory symptom control for clinical and research purposes. read more here.
Keywords: questionnaire bronchopulmonary; validation outpatient; control; dysplasia ... See more keywords