Results 111 to 120 of about 5,596,228 (313)

Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome:therapeutic perspectives for 5-HT1A agonists [PDF]

, 2014
Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system.
Abdala, Ana Paula, Bissonnette, John, Newman-Tancredi, Adrian   +2 more
core   +3 more sources

Sheehan’s syndrome

Gynecological Endocrinology, 2012
Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS.
Kilicli, Fatih, Dokmetas, Hatice Sebila, Acibucu, Fettah   +2 more
openaire   +4 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Primary Sjögren’s syndrome with polymyositis, a rare amalgamation

Egyptian Rheumatology and Rehabilitation, 2018
Sjögren’s syndrome is characterized by diminished lacrimal and salivary gland secretory function. This disorder is not strictly confined to the exocrine glands and its manifestations may extend to extraglandular sites, such as the lungs, kidneys ...
Harpreet Singh, Deepak Jain, B Kiran, Neeraj Kumar   +3 more
doaj   +1 more source

Cannabinoid Hyperemesis Syndrome [PDF]

, 2015
Legalization of marijuana use will increase the number of people who will become long-term users. A prior medical record review study in Australia, in 2004, identified 19 chronic marijuana users who entered the emergency department with recurrent ...
Heise, Lynn
core   +2 more sources

Ascher Syndrome

Otolaryngology–Head and Neck Surgery, 2001
Abstract Not ...
Kara, İnci Gökalan, Kara, Cüneyt Orhan   +1 more
openaire   +4 more sources

Dammarenediol II enhances etoposide‐induced apoptosis by targeting O‐GlcNAc transferase and Akt/GSK3β/mTOR signaling in liver cancer

Molecular Oncology, EarlyView.
Etoposide induces DNA damage, activating p53‐dependent apoptosis via caspase‐3/7, which cleaves PARP1. Dammarenediol II enhances this apoptotic pathway by suppressing O‐GlcNAc transferase activity, further decreasing O‐GlcNAcylation. The reduction in O‐GlcNAc levels boosts p53‐driven apoptosis and influences the Akt/GSK3β/mTOR signaling pathway ...
Jaehoon Lee, Byung‐Cheol Han, Gi‐Bang Koo, Jihye Park, Mijin Kwon, Young Bin Park, Jae‐Mun Choi, Seung‐Ho Lee, Sangho Roh   +8 more
wiley   +1 more source

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Molecular Autism
Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach   +12 more
doaj   +1 more source

Goldenhar syndrome: A case report and review

CHRISMED Journal of Health and Research, 2017
Goldenhar syndrome (GS) is also known as hemifacial microsomia or oculo-auriculo-vertebral dysplasia. This condition mainly affects the oral cavity, eyes, ear, and vertebrae. This is a rare congenital anomaly.
Sonika Achalli, Subhas G Babu, Murali Patla, Medhini Madi, Shishir Ram Shetty   +4 more
doaj   +1 more source