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Select item 93549491.

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

Yu Ding, Jiande Chen, Yijun Tang, Li-Na Chen, Ru-En Yao, Tingting Yu, Yong Yin, Xiumin Wang, Jian Wang, Niu Li

Front Genet. 2022; 13: 940776. Published online 2022 Jul 22. doi: 10.3389/fgene.2022.940776

PMCID:: PMC9354949

Abstract Article PDF–1.8M

Select item 78022192.

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

Heidi Diel, Can Ding, Franz Grehn, Panagiotis Chronopoulos, Oliver Bartsch, Esther M. Hoffmann

BMC Ophthalmol. 2021; 21: 28. Published online 2021 Jan 11. doi: 10.1186/s12886-020-01788-0

Correction in:: BMC Ophthalmol. 2021; 21: 57.

PMCID:: PMC7802219

Abstract Article PDF–501K

Select item 98207113.

Transcriptomic Analysis Reveals That Retinal Neuromodulation Is a Relevant Mechanism in the Neuroprotective Effect of Sitagliptin in an Experimental Model of Diabetic Retinopathy

Hugo Ramos, Patricia Bogdanov, Rafael Simó, Anna Deàs-Just, Cristina Hernández

Int J Mol Sci. 2023 Jan; 24(1): 571. Published online 2022 Dec 29. doi: 10.3390/ijms24010571

PMCID:: PMC9820711

Abstract Article PDF–4.4M

Select item 97561414.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh

Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872

PMCID:: PMC9756141

Abstract Article PDF–636K

Select item 98085515.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

Riccardo Sangermano, Pooja Biswas, Lori S. Sullivan, Emily M. Place, Shyamanga Borooah, Juerg Straubhaar, Eric A. Pierce, Stephen P. Daiger, Kinga M. Bujakowska, Radha Ayaggari

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006247. doi: 10.1101/mcs.a006247

PMCID:: PMC9808551

Abstract Article PDF–3.0M

Select item 97976736.

Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients

Duoduo Zhang, Fengxia Yao, Min Luo, Yanfang Wang, Tiffany Tian, Shan Deng, Qinjie Tian

Front Endocrinol (Lausanne) 2022; 13: 978026. Published online 2022 Dec 15. doi: 10.3389/fendo.2022.978026

PMCID:: PMC9797673

Abstract Article PDF–5.4M

Select item 97975877.

Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review

Min Yin, Jiaxin Yang, Qinjie Tian, Xinyue Zhang

Front Endocrinol (Lausanne) 2022; 13: 989695. Published online 2022 Dec 15. doi: 10.3389/fendo.2022.989695

PMCID:: PMC9797587

Abstract Article PDF–1.0M

Select item 97968818.

Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis

Agnese Suppiej, Chiara Ceccato, Valentina Lonardi, Maria E. Reffo

Dev Med Child Neurol. 2022 Dec; 64(12): 1532–1538. Published online 2022 May 29. doi: 10.1111/dmcn.15284

PMCID:: PMC9796881

Abstract Article PDF–1.5M

Select item 97890129.

The role of testosterone, the androgen receptor, and hypothalamic-pituitary–gonadal axis in depression in ageing Men

Richard L. Hauger, Ursula G. Saelzler, Meghana S. Pagadala, Matthew S. Panizzon

Rev Endocr Metab Disord. 2022; 23(6): 1259–1273. Published online 2022 Nov 22. doi: 10.1007/s11154-022-09767-0

PMCID:: PMC9789012

Abstract Article PDF–1.2M

Select item 978776810.

Challenges in the Diagnosis of XY Differences of Sexual Development

Žana Bumbulienė, Diana Bužinskienė, Greta Banuškevičienė, Evelina Šidlovska, Eglė Preikšaitienė, Algirdas Utkus

Medicina (Kaunas) 2022 Dec; 58(12): 1736. Published online 2022 Nov 27. doi: 10.3390/medicina58121736

PMCID:: PMC9787768

Abstract Article PDF–3.6M

Select item 978627011.

Determining the expression levels of CSF‐1 and OCT4, CREM‐1, and protamine in testicular biopsies of adult Klinefelter patients: Their possible correlation with spermatogenesis

Maram Abofoul‐Azab, Eitan Lunenfeld, Sandra Kleiman, Shimi Barda, Ron Hauser, Mahmoud Huleihel

Andrologia. 2022 Nov; 54(10): e14558. Published online 2022 Aug 19. doi: 10.1111/and.14558

PMCID:: PMC9786270

Abstract Article PDF–1.1M

Select item 977946312.

The Role of Ectodysplasin A on the Ocular Surface Homeostasis

Shangkun Ou, Mani Vimalin Jeyalatha, Yi Mao, Junqi Wang, Chao Chen, Minjie Zhang, Xiaodong Liu, Minghui Liang, Sijie Lin, Yiming Wu, Yixuan Li, Wei Li

Int J Mol Sci. 2022 Dec; 23(24): 15700. Published online 2022 Dec 10. doi: 10.3390/ijms232415700

PMCID:: PMC9779463

Abstract Article PDF–1.5M

Select item 977774613.

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome

Qiwei Wang, Tingfeng Qin, Xun Wang, Jing Li, Xiaoshan Lin, Dongni Wang, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin, Weirong Chen

Genes (Basel) 2022 Dec; 13(12): 2364. Published online 2022 Dec 14. doi: 10.3390/genes13122364

PMCID:: PMC9777746

Abstract Article PDF–1.0M

Select item 977386714.

Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation

Shi Yan, Xuege Wu, Jinqiu Jiang, Shijuan Yu, Xiao Fang, Huan Yang, Xiaoming Bai, Hua Wang, Xiaoyan Luo

Front Immunol. 2022; 13: 1054422. Published online 2022 Dec 8. doi: 10.3389/fimmu.2022.1054422

PMCID:: PMC9773867

Abstract Article PDF–2.0M

Select item 977126815.

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo

Medicine (Baltimore) 2022 Dec 16; 101(50): e32161. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032161

PMCID:: PMC9771268

Abstract Article PDF–699K

Select item 975933116.

Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1

Sohyun Moon, Ying-Tao Zhao

Hum Mol Genet. 2022 Dec 15; 31(24): 4207–4216. Published online 2022 Jul 28. doi: 10.1093/hmg/ddac172

PMCID:: PMC9759331

Abstract Article PDF–1.3M

Select item 993874817.

A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy

Junwei Zhong, Jie Shi, Xiaotian Zhang, Ke Xu, Xiaohui Zhang, Yue Xie, Yang Li

Mol Genet Genomic Med. 2023 Feb; 11(2): e2083. Published online 2022 Nov 5. doi: 10.1002/mgg3.2083

PMCID:: PMC9938748

Abstract Article PDF–5.6M

Select item 983623018.

Formation of the glomerular microvasculature is regulated by VEGFR-3

Michael D. Donnan, Dilip K. Deb, Tuncer Onay, Rizaldy P. Scott, Eric Ni, Yalu Zhou, Susan E. Quaggin

Am J Physiol Renal Physiol. 2023 Jan 1; 324(1): F91–F105. Published online 2022 Nov 17. doi: 10.1152/ajprenal.00066.2022

PMCID:: PMC9836230

Abstract Article

Select item 983700519.

MiR92b-3p synthetic analogue impairs zebrafish embryonic development, leading to ocular defects, decreased movement and hatching rate, and increased mortality

Kilian Kranert, Maciej Woźny, Piotr Podlasz, Krzysztof Wąsowicz, Paweł Brzuzan

J Appl Genet. 2023; 64(1): 145–157. Published online 2022 Oct 24. doi: 10.1007/s13353-022-00732-w

PMCID:: PMC9837005

Abstract Article PDF–1.9M

Select item 985174420.

Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

Kerstin Nagel-Wolfrum, Benjamin R Fadl, Mirjana M Becker, Kirsten A Wunderlich, Jessica Schäfer, Daniel Sturm, Jacques Fritze, Burcu Gür, Lew Kaplan, Tommaso Andreani, Tobias Goldmann, Matthew Brooks, Margaret R Starostik, Anagha Lokhande, Melissa Apel, Karl R Fath, Katarina Stingl, Susanne Kohl, Margaret M DeAngelis, Ursula Schlötzer-Schrehardt, Ivana K Kim, Leah A Owen, Jan M Vetter, Norbert Pfeiffer, Miguel A Andrade-Navarro, Antje Grosche, Anand Swaroop, Uwe Wolfrum

Hum Mol Genet. 2023 Feb 1; 32(3): 431–449. Published online 2022 Aug 23. doi: 10.1093/hmg/ddac211

PMCID:: PMC9851744

Abstract Article PDF–2.4M

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