Results 141 to 150 of about 15,433 (199)

Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction Worldwide, combined 17‐hydroxylase/17,20‐lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex steroid formation in the adrenals and ...
Rafaela Fontenele, Flávia A. Costa‐Barbosa, Marivânia Costa‐Santos, Rafael L. Batista, Lívia M. Mermejo, Berenice B. Mendonça, Margaret de Castro, Gil Guerra‐Júnior, Claudio E. Kater, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group (BCAHMSG)   +9 more
wiley   +1 more source

Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses. [PDF]

Balkan J Med Genet
Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D.   +3 more
europepmc   +1 more source

TRAPPC2l Participates in Male Germ Cell Development by Regulating Cell Division

Cell Proliferation, EarlyView.
Trappc2l is crucial for maintaining the quiescent state of male gonocytes. In the absence of Trappc2l, the quiescent state of gonocytes is disrupted, leading to premature and abnormal initiation of meiosis, which consequently results in subsequent abnormalities in sperm development. ABSTRACT TRAPPC2L is a core subunit of the Transport Protein Particle (
Mengyue Wang, Jiayi Li, Bowen Liu, Zhiming Shen, Min Chen, Xiuhong Cui, Hongbin Liu, Fei Gao, Han Zhao   +8 more
wiley   +1 more source

Clinical Analysis of Y Chromosome Microdeletions and Chromosomal Aberrations in 1596 Male Infertility Patients of the Zhuang Ethnic Group in Guangxi. [PDF]

Reprod Sci
Shi M, Ma S, Huang L, Huang C, Wang J, Qin X, Luo Y, Xiong Y, He N, Zeng J.   +9 more
europepmc   +1 more source

Testis‐Specific PDHA2 Is Required for Proper Meiotic Recombination and Chromosome Organisation During Spermatogenesis

Cell Proliferation, EarlyView.
PDHA2, a testis‐specific subunit of pyruvate dehydrogenase, is required for the conversion of pyruvate to acetyl‐CoA. Its absence results in decreased acetyl‐CoA and precursors for metabolites and energy during spermatogenesis. This results in decreased histone acetylation, defective chromosome structure and moderately reduced crossovers, ultimately ...
Guoqiang Wang, Kailun Fang, Yongliang Shang, Xu Zhou, Qiqi Shao, Si Li, Ping Wang, Charlie Degui Chen, Liangran Zhang, Shunxin Wang   +9 more
wiley   +1 more source

Noninvasive prenatal testing: an overview. [PDF]

Aust Prescr
Poulton A, Hui L.
europepmc   +1 more source

Production and Functional Verification of 8‐Gene (GGTA1, CMAH, β4GalNT2, hCD46, hCD55, hCD59, hTBM, hCD39)‐Edited Donor Pigs for Xenotransplantation

Cell Proliferation, EarlyView.
Schematic representation of generation of 8‐gene‐edited cloned pigs and their verification by pig to non‐human primate kidney xenotransplantation. ABSTRACT Gene‐edited (GE) pig‐to‐human xenotransplantation continues to make breakthroughs, but which kind of gene combination is suitable for organ‐specific transplantation remains unclear.
Jiaoxiang Wang, Kaixiang Xu, Tao Liu, Heng Zhao, Muhammad Ameen Jamal, Gen Chen, Xiaoying Huo, Chang Yang, Deling Jiao, Taiyun Wei, Hanfei Huang, Hongfang Zhao, Jianxiong Guo, Fengchong Wang, Xiong Zhang, Kai Liu, Siming Qu, Gang Wang, Hui Guo, Gang Chen, Hong‐Ye Zhao, Zhong Zeng, Kefeng Dou, Hong‐Jiang Wei   +23 more
wiley   +1 more source

Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier. [PDF]

Hum Mol Genet
Wan L, Baitao Z, Yuxin T, Zhongfa C, Jihui Z, Ning H, Bicheng Y, Shuhui H, Yanqiu L, Huizhen Y.   +9 more
europepmc   +1 more source

Engineering Intervertebral Disc Regeneration: Biomaterials, Cell Sources and Animal Models

Cell Proliferation, EarlyView.
This review highlights the current tissue engineering approaches utilising biomaterials, animal models and cell sources for intervertebral disc regeneration and discusses future opportunities. ABSTRACT Intervertebral disc (IVD) degeneration is an age‐related problem triggering chronic spinal issues, such as low back pain and IVD herniation.
Sidong Yang, Farhad Soheilmoghaddam, Peter Pivonka, Joan Li, Samuel Rudd, Trifanny Yeo, Ji Tu, Yibo Zhu, Justin J. Cooper‐White   +8 more
wiley   +1 more source

Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy). [PDF]

Hemasphere
Ernst MPT, Versluis J, Valk PJM, Bierings M, Tamminga RYJ, Hooimeijer LH, Döhner K, Gresele P, Tawana K, Langemeijer SMC, Van der Reijden BA, Podgornik H, Sever M, Tvedt THA, Vulliamy T, Fitzgibbon J, Dokal I, Baliakas P, Bastida JM, Pohlkamp C, Haferlach T, Larcher L, Soulier J, Schutgens REG, Freson K, Duployez N, Löwenberg B, Ericson K, Cammenga J, Ripperger T, Raaijmakers MHGP.   +30 more
europepmc   +1 more source