Results 171 to 180 of about 195,915 (258)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

CNDP1 and Diabetic Kidney Disease: From Genetic Susceptibility to Therapeutic Targeting. [PDF]

open access: yesGenes (Basel)
Delibasi BT   +4 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Isoprenaline alleviates diabetic kidney disease via multi-target inhibition of the cGAS-STING pathway. [PDF]

open access: yesBiosci Rep
Ma R   +12 more
europepmc   +1 more source

The potency of native postbiotics and paraprobiotics in modulating inflammation by affecting the gut–kidney axis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Native postbiotics and paraprobiotics derived from Lactobacillus and Bifidobacterium strains were administered to dextran sulfate sodium–treated C57BL/6 mice to evaluate their impact on kidney inflammation via the gut–kidney axis. Histological analysis and quantitative polymerase chain reaction of autophagy‐related genes (atg5, atg7, atg12, atg13 ...
Fatemeh Haririzadeh Jouriani   +6 more
wiley   +1 more source

Au(I) Complex With an Abnormal Carbene Ligand Shows Anti‐Kasha Dual Photoluminescence Emission

open access: yesAngewandte Chemie, EarlyView.
Incorporation of an abnormal N‐heterocyclic carbene into a heteroleptic linear Au(I) complex induces anti‐Kasha dual emission responsive to biologically relevant phenyl sulfate. ABSTRACT We report the first photoactive linear Au(I) complex with an abnormal N‐heterocyclic carbene (aNHC) ligand, Au(aIm)(Cz).
Natesan Mannangatti Rajendran   +5 more
wiley   +2 more sources

Strategies for inducing diabetes in laboratory animals: Advances from chemical, surgical, immunologic, dietary, and genetic approaches

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji   +2 more
wiley   +1 more source

β-Thujaplicin Mobilizes Renal Tubular Iron to Alleviate Diabetic Kidney Disease. [PDF]

open access: yesRen Fail
Yang F   +6 more
europepmc   +1 more source

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