Results 171 to 180 of about 65,633 (254)

[Functional constipation].

open access: yesRevista de gastroenterologia de Mexico, 2006
openaire   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

open access: yesThe FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen   +10 more
wiley   +1 more source

A Meta-analysis of Traditional Chinese Medicine constitution distribution in people with functional constipation. [PDF]

open access: yesJ Tradit Chin Med
Xuehui W   +12 more
europepmc   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

open access: yesThe FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon   +4 more
wiley   +1 more source

Task-Dependent Cortical Oscillatory Dynamics in Functional Constipation. [PDF]

open access: yesSensors (Basel)
Li J   +11 more
europepmc   +1 more source

Early improvements in function with atogepant as assessed by the Activity Impairment in Migraine–Diary: Post hoc analyses of three randomized, phase 3 clinical trials of atogepant for the preventive treatment of migraine

open access: yesHeadache: The Journal of Head and Face Pain, EarlyView.
Abstract Objective Evaluate early functional improvements with the preventive migraine treatment atogepant using Activity Impairment in Migraine–Diary (AIM‐D) individual and activity limitation items, and complete improvement in AIM‐D Performance of Daily Activities (PDA) and Physical Impairment (PI) domain scores assessed weekly during the first 4 ...
Richard B. Lipton   +9 more
wiley   +1 more source

A post hoc analysis of linaclotide in pediatric patients with functional constipation and neurodevelopmental disorders. [PDF]

open access: yesJ Pediatr Gastroenterol Nutr
Person H   +9 more
europepmc   +1 more source

Assessing the quality of end‐of‐life care in systemic sclerosis

open access: yesInternal Medicine Journal, EarlyView.
Abstract Background Systemic sclerosis (SSc) is a rare autoimmune disease with the highest mortality among rheumatic diseases, yet little is known about the quality of end‐of‐life care in SSc. Aims To evaluate end‐of‐life care in SSc against the Australian National Consensus Statement's Essential Elements for high‐quality end‐of‐life care and compare ...
Julie McDonald   +4 more
wiley   +1 more source

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