Results 151 to 160 of about 105,723 (318)

A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation. [PDF]

J Med Cases, 2022
Cho C, Kodo K, Goto S, Katsumi Y.
europepmc   +1 more source

Ovarian dysgenesis with balanced autosomal translocation.

Journal of postgraduate medicine, 2002
Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11.
M. S. Tullu, P. Arora, R. C. Parmar, M. N. Muranjan, B. A. Bharucha   +4 more
openaire   +1 more source

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype

Clinical Case Reports
This case report describes a fetus with a Jacobsen syndrome phenotype, caused by an unbalanced translocation t(5;11)(q21;q22) resulting from an inherited balanced translocation from one of the parents; it underscores the importance of undertaking ...
Yuri Hasegawa, Yuriko Kitajima, Koh Nagata, Shoko Miura, Kiyonori Miura   +4 more
doaj   +1 more source

Detection of recurrent balanced translocations in Acute Myeloid Leukemia by Multiplex RT-PCR [PDF]

, 2017
Manoj Gopal Madakshira, Jyoti Kotwal
openalex   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports. [PDF]

J Med Case Rep, 2021
Wan X, Li L, Liu Z, Fan Z, Yu L.
europepmc   +1 more source

A (4;11) translocation, balanced, 46 chromosomes [PDF]

Cytogenetic and Genome Research, 1975
B.G. Kousseff, H.J. Kim, L.Y.F. Hsu, K. Hirschhorn, R.C. Miller, A.E. Greene, L.L. Coriell   +6 more
openaire   +1 more source

Perfluorooctanoic Acid Exposure Causes Macrophage Ammonia Retention and Induces Spontaneous Miscarriages

Advanced Science, EarlyView.
PFOA exposure induces pregnancy loss by promoting glutaminolysis, which further causes ammonia accumulation in macrophages. Cellular ammonia retention results in damage to mitochondria and lysosomes, which leads to cell death eventually. Impaired lysosomes also decrease the secretion of the Cathepsin B (CTSB), and attenuate macrophage infiltration and ...
Yongbo Zhao, Yijun Zhang, Hanyu Rao, Jiani Sun, Zhiyi Pan, Liping Jin, Yan Zhao   +6 more
wiley   +1 more source

Correction to: Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports. [PDF]

J Med Case Rep, 2021
Wan X, Li L, Liu Z, Fan Z, Yu L.
europepmc   +1 more source