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
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets.
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DOI: 10.1007/978-3-319-45803-8_7
Abstract: Genetic skeletal diseases (GSDs) are a diverse and complex group of over 450 rare diseases that affect the development and homoeostasis of the skeleton. Although individually rare, as a group of related genetic skeletal diseases,… read more here.
Keywords: pseudoachondroplasia multiple; epiphyseal dysplasia; genetics; molecular genetics ... See more keywords
Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome
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DOI: 10.1055/s-0043-57005
Abstract: Abstract Wolcott–Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients with consanguineous parents.… read more here.
Keywords: wolcott rallison; rallison syndrome; epiphyseal dysplasia; dysplasia ... See more keywords
Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia
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DOI: 10.1136/bcr-2017-221156
Abstract: Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding… read more here.
Keywords: epiphyseal dysplasia; diagnosis; type iva; iva morquio ... See more keywords