Results 61 to 70 of about 216,939 (266)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Uterine prostaglandin DP receptor-induced upon implantation contributes to decidualization together with EP4 receptor

Journal of Lipid Research
To investigate the yet-unknown roles of prostaglandins (PGs) in the uterus, we analyzed the expression of various PG receptors in the uterus. We found that three types of Gs-coupled PG receptors, DP, EP2, and EP4, were expressed in luminal epithelial ...
Risa Sakamoto, Takuji Fujiwara, Yuko Kawano, Shizu Aikawa, Tomoaki Inazumi, On Nakayama, Yukiko Kawasaki-Shirata, Miho Hashimoto-Iwasaki, Toshiko Sugimoto, Soken Tsuchiya, Satohiro Nakao, Toru Takeo, Yasushi Hirota, Yukihiko Sugimoto   +13 more
doaj   +1 more source

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

American 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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A novel mouse model of endometriosis: Simulating the recurrent hemorrhagic microenvironment of clinical lesions

Animal Models and Experimental Medicine, EarlyView.
To address the limitations of existing models, this study innovatively established a mouse model of endometriosis (EMs) capable of mimicking cyclic bleeding. Our results confirmed that this model recapitulates the complete pathological progression from ectopic lesion establishment to systemic responses, exhibiting superior clinical relevance compared ...
Yu Zhuang, Yan Zan, Tiantian Ma, Xiaoquan Huang, Junwei Li, Liangjun Xia, Yuping Sa, Youbing Xia   +7 more
wiley   +1 more source

Development of immunocompetent models for primary and metastatic ER+ breast cancer

Animal Models and Experimental Medicine, EarlyView.
This study explores syngeneic, immunocompetent models of ER+ breast cancer in 129S6/SvEv mice, using trackable tumor cells to model both primary tumors and metastasis. The models show promise, while also revealing limitations for studying advanced disease and immune interactions.
Devon M. Bull, Jody Hazlett, Emily Schulpen, Sophie Tunnicliffe, Alexander D. McLellan, Anita K. Dunbier   +5 more
wiley   +1 more source

Chronic alcohol consumption compromises gut barrier integrity and promotes endotoxemia: Implications for sepsis susceptibility in immunocompromised hosts

Animal Models and Experimental Medicine, EarlyView.
Chronic alcohol exposure disrupts intestinal barrier integrity, resulting in a leaky gut and enhanced translocation of lipopolysaccharide (LPS) and microbial products into the systemic circulation. Alcohol‐induced endotoxemia drives exaggerated pro‐inflammatory responses, mitochondrial damage, and activation of the cGAS–STING pathway, particularly in ...
Thansita Bhunyakarnjanarat, Chatsuree Suksamai, Dhammika Leshan Wannigama, Kent Doi, Wiwat Chancharoenthana, Asada Leelahavanichkul   +5 more
wiley   +1 more source

Vaporization of the Uterus [PDF]

The American Journal of the Medical Sciences, 1904
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openaire   +1 more source

Canine brachycephalic obstructive airway syndrome as a model for studying the effects of obstructive sleep apnea during pregnancy

Animal Models and Experimental Medicine, EarlyView.
We observed a negative effect of brachycephalic obstructive airway syndrome (BOAS) in a staggered manner based on the severity of the condition on respiratory and cardiac patterns, glycemia, acid–base balance, fetal growth, and uterine artery hemodynamics, thus requiring adaptations within the fetal–placental unit. Severely affected bitches had uterine
Roberto Rodrigues da Rosa Filho, Thayná Pantoja Gardés, Maíra Morales Brito, Leticia Lima de Almeida, Camila Infantosi Vannucchi   +4 more
wiley   +1 more source