Results 51 to 60 of about 85,930 (296)

NET‐DNA Activates the ANXA2/TMEM215/BiP Axis to Promote Mitophagy‐Mediated Anoikis Resistance in Endometriosis

Advanced Science, EarlyView.
NET‐DNA is enriched during early endometriotic lesion establishment and drives anoikis resistance by promoting an ANXA2–TMEM215–BiP axis. This pathway strengthens ER–mitochondria contacts, enhances PINK1/Parkin‐associated mitophagy, preserves mitochondrial homeostasis, and supports ectopic stromal cell survival, thereby facilitating lesion persistence ...
Honglin Wang, Yanling Gou, Huiyan Zhang, Hongli Wang, Beidi Wang, Jinming Liu, Yingying Cao, Ruru Bai, Yuxin Zhao, Xu Han, Chao Feng, Xin Huang, Zongfeng Zhang   +12 more
wiley   +1 more source

Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. [PDF]

, 2017
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder caused by mutations in the ENPP1 gene. It is characterized by mineralization of the arterial blood vessels, often diagnosed prenatally, and associated with death in ...
Kingman, Joshua, Li, Qiaoli, Uitto, Jouni   +2 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Endogenous driving and synchronization in cardiac and uterine virtual tissues: bifurcations and local coupling [PDF]

, 2006
Cardiac and uterine muscle cells and tissue can be either autorhythmic or excitable. These behaviours exchange stability at bifurcations produced by changes in parameters, which if spatially localized can produce an ectopic pacemaking focus.
Benson, A.P., Clayton, R.H., Holden, A.V., Kharche, S., Tong, W.C.   +4 more
core   +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

Risk Factors for Recurrent Ectopic Pregnancy: A Case - Control Study

Gynecology Obstetrics & Reproductive Medicine, 2014
OBJECTIVES: To investigate the role of epidemiological factors in recurrent ectopic pregnancies. STUDY DESIGN: From January 2003 to February 2005, 205 women with single ectopic pregnancy and 20 women with recurrent ectopic pregnancy were identified. The
Abdullah Karaer, Sabri Cavkaytar, İsmail Mert, Sertaç Batıoğlu   +3 more
doaj  

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

The trend of the distribution of ectopic pregnancy sites and the clinical characteristics of caesarean scar pregnancy

Reproductive Health, 2022
Plain language summary Ectopic pregnancy occurs when a fertilized ovum implants outside the endometrium of the uterine cavity, which is a life-threatening occurrence and is an important cause of pregnancy-related mortality.
Panpan Tang, Xiaomao Li, Wenwei Li, Yunhui Li, Yu Zhang, Yuebo Yang   +5 more
doaj   +1 more source

Obstetric and long-term kidney outcomes in renal transplant recipients: a 40 year single-centre study [PDF]

, 2016
Female renal transplant recipients of childbearing age may ask what the outcomes are for pregnancy and whether pregnancy will affect graft function. We analyzed obstetric and transplant outcomes among renal transplant recipients in our center who have ...
Brennand, Janet E., Deighan, Christopher J., Geddes, Colin C., Gorrie, Morag, Mark, Patrick B., McNeill, Susan H., Stoumpos, Sokratis   +6 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source