SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
Studies of ciliopathies have served in elucidating much of our knowledge of structure and
function of primary cilia. We report humans with Bardet-Biedl syndrome who display …
function of primary cilia. We report humans with Bardet-Biedl syndrome who display …
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
Y Yogev, Z Shorer, A Koifman… - Proceedings of the …, 2023 - National Acad Sciences
Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert
their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the …
their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the …
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish
Abstract Microtubule associated protein 11 (MAP11, previously termed C7orf43) encodes a
highly conserved protein whose function is unknown. Through genome-wide linkage …
highly conserved protein whose function is unknown. Through genome-wide linkage …
[HTML][HTML] Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
Gout is caused by deposition of monosodium urate crystals in joints when plasma uric acid
levels are chronically elevated beyond the saturation threshold, mostly due to renal …
levels are chronically elevated beyond the saturation threshold, mostly due to renal …
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
Background Consanguineous kindred presented with an autosomal recessive syndrome of
intrauterine growth retardation, marked developmental delay, spastic quadriplegia with …
intrauterine growth retardation, marked developmental delay, spastic quadriplegia with …
[HTML][HTML] IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
O Wormser, Y Perez, V Dolgin, B Kamali… - NPJ Genomic …, 2023 - nature.com
Genomic sequences residing within introns of few genes have been shown to act as
enhancers affecting expression of neighboring genes. We studied an autosomal recessive …
enhancers affecting expression of neighboring genes. We studied an autosomal recessive …
Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency
A Nahum, N Sharfe, A Broides, H Dadi… - Journal of Allergy and …, 2020 - jacionline.org
We report here a cohort of 4 patients born to 2 distantly related families residing within a
Bedouin tribe in southern Israel. All 4 patients experienced repeated invasive microbial …
Bedouin tribe in southern Israel. All 4 patients experienced repeated invasive microbial …
[HTML][HTML] The effects of a ketogenic diet on patients with dihydrolipoamide dehydrogenase deficiency
O Staretz-Chacham, B Pode-Shakked, E Kristal… - Nutrients, 2021 - mdpi.com
Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3
subunit of the pyruvate dehydrogenase complex (PDHC)) is the third catalytic enzyme of the …
subunit of the pyruvate dehydrogenase complex (PDHC)) is the third catalytic enzyme of the …
[HTML][HTML] Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive
progressive spastic paraplegia evident as of age 0–24 months, with spasticity of lower limbs …
progressive spastic paraplegia evident as of age 0–24 months, with spasticity of lower limbs …
Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel
M Drabkin, N Zilberberg, S Menahem… - Circulation: Genomic …, 2018 - Am Heart Assoc
Background: Paroxysmal atrial fibrillation (AF) can be caused by gain-of-function mutations
in genes, encoding the cardiac potassium channel subunits KCNJ2, KCNE1, and KCNH2 …
in genes, encoding the cardiac potassium channel subunits KCNJ2, KCNE1, and KCNH2 …