Results 71 to 80 of about 55,016 (311)

OAF Blocks SIAH1‐Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD

Advanced Science, EarlyView.
This study shows OAF directly binds to SCPX and inhibits its interaction with the E3 ligase SIAH1, thereby protecting SCPX from ubiquitin‐dependent degradation and stabilizing its levels. This OAF‐SCPX axis represents a novel pathway in lipid homeostasis, highlighting OAF as a promising therapeutic candidate for MASLD.
Zongxi Li, Jingyue Song, Kaili Ma, Shunan Tang, Shuqian Wang, Wenya Ji, Chen Lu, Ting Zhang, Huaping Zheng, Xiaowei Zheng, Shanshan Lai, Cheng Deng   +11 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

The effect of Sea urchin (Diadema setosum) gonad extract on IgM and IgG antibodies production in BALB/c mice infected by Salmonella typhi

Jurnal Gizi Klinik Indonesia, 2018
Background: Salmonella typhi infection decreases of the immune system and influences the adaptive antibodies among malnourished children. The gonad of Diadema setosum (D.
Wa Ode Salma, Ilyas Yusuf, Marni Karo, La Banudi   +3 more
doaj   +1 more source

Panopea-gonad-transcriptome

, 2018
Files associated with Geoduck gonad ...
Steven Roberts
core   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Gonadal Sex Differentiation: Supporting Versus Steroidogenic Cell Lineage Specification in Mammals and Birds

Frontiers in Cell and Developmental Biology, 2020
The gonads of vertebrate embryos are unique among organs because they have a developmental choice; ovary or testis formation. Given the importance of proper gonad formation for sexual development and reproduction, considerable research has been conducted
Martin A. Estermann, Andrew T. Major, Craig A. Smith   +2 more
doaj   +1 more source

Gonad shielding in paediatric pelvic radiography: Disadvantages prevail over benefit [PDF]

, 2011
Objective To re-evaluate gonad shielding in paediatric pelvic radiography in terms of attainable radiation risk reduction and associated loss of diagnostic information.
Kemerink, G.J., Postma, A.A., Zoetelief, J. (author), Zoetelief, J., Johannes Zoetelief, Simon Robben, Wildberger, J.E. (author), Alida A. Postma, Robben, S., Wildberger, J.E., Kemerink, G.J. (author), Robben, S. (author), Joachim E. Wildberger, Gerrit J. Kemerink, Frantzen, M.J., Postma, A.A. (author), Frantzen, M.J. (author), Marij J. Frantzen   +17 more
core   +3 more sources

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Long-term estrogen exposure of whitefish Coregonus lavaretus induces intersex but not Lake Thun-typical gonad malformations

, 2009
A high prevalence of gonad morphological variations has been observed in whitefish Coregonus lavaretus from Lake Thun (Switzerland). To clarify the role of endocrine disruption as a possible cause of the gonad alterations, whitefish were reared in a long-
Segner, Helmut, Wenger, M., Kipfer, S., Bernet, Daniel, Wahli, Thomas   +4 more
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source