Results 161 to 170 of about 645,542 (342)

Synergistic RU486 and olaparib therapy enhances apoptosis in endometriosis by simultaneously targeting hormonal signalling and DNA repair

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and Purpose Endometriosis is a chronic, hormone‐dependent disorder characterized by ectopic implantation of endometrial tissue, often accompanied by pain and infertility. Although the progesterone receptor modulator RU486 is effective for pain relief, its impact on lesion regression is limited, possibly due to apoptosis resistance and ...
Yujie Peng   +10 more
wiley   +1 more source

Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report. [PDF]

open access: yesAm J Case Rep
Manasar-Dyrbuś M   +4 more
europepmc   +1 more source

Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.

open access: yesKidney International, 2016
Dongmei Lu   +11 more
semanticscholar   +1 more source

Vitamin D Supplementation to Prevent Post‐Thyroidectomy Hypocalcemia

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective Hypocalcemia is the most common complication following thyroidectomy. Previous studies yielded inconsistent results on whether vitamin D3 prevents postoperative hypocalcemia and were conducted in non‐European countries with different dietary habits and baseline vitamin D levels.
Jeresa I. A. Willems   +9 more
wiley   +1 more source

Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation. [PDF]

open access: yesNephrology (Carlton)
Ito H   +11 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

open access: yesClinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis   +9 more
wiley   +1 more source

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study. [PDF]

open access: yesClin J Am Soc Nephrol
Bozkurt EG   +19 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

open access: yesPediatric nephrology (Berlin, West), 2011
C. Gascue, N. Katsanis, José L. Badano
semanticscholar   +1 more source

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