PMC Articles for MedGen (Select 811538) - PMC

Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0

PMCID:: PMC11046915

Abstract Article PDF–1.6M

Select item 110367754.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini

BMC Med Genomics. 2024; 17: 100. Published online 2024 Apr 22. doi: 10.1186/s12920-024-01868-w

PMCID:: PMC11036775

Abstract Article PDF–2.3M

Select item 110003295.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang

Orphanet J Rare Dis. 2024; 19: 149. Published online 2024 Apr 8. doi: 10.1186/s13023-024-03150-9

PMCID:: PMC11000329

Abstract Article PDF–1.7M

Select item 105247266.

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Nedelea, Laurențiu Bohîlțea, Lavinia Caba, Lăcrămioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Emandi-Chiriță, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean, Erica E. Davis

Am J Med Genet A. Author manuscript; available in PMC 2024 Sep 1.

Published in final edited form as: Am J Med Genet A. 2023 Sep; 191(9): 2376–2391. Published online 2023 Jun 9. doi: 10.1002/ajmg.a.63322

PMCID:: PMC10524726

Abstract Article PDF–1.5M

Select item 103589927.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A. S. Knisely, Stanislav Kmoch, Milan Jirsa

PLoS One. 2023; 18(7): e0288907. Published online 2023 Jul 20. doi: 10.1371/journal.pone.0288907

PMCID:: PMC10358992

Abstract Article PDF–2.0M

Select item 102179288.

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair

Genes (Basel) 2023 May; 14(5): 1113. Published online 2023 May 19. doi: 10.3390/genes14051113

PMCID:: PMC10217928

Abstract Article PDF–2.2M

Select item 99954939.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Raymond Belanger Deloge, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott

Eur J Hum Genet. 2023 Mar; 31(3): 296–303. Published online 2022 Dec 6. doi: 10.1038/s41431-022-01255-y

PMCID:: PMC9995493

Abstract Article PDF–710K

Select item 963496610.

CEP19–RABL2–IFT-B axis controls BBSome-mediated ciliary GPCR export

Zhuang Zhou, Yohei Katoh, Kazuhisa Nakayama

Mol Biol Cell. 2022 Nov 1; 33(13): ar126. Published online 2022 Nov 1. doi: 10.1091/mbc.E22-05-0161

PMCID:: PMC9634966

Abstract Article PDF–6.7M

Select item 890591011.

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner

Orphanet J Rare Dis. 2022; 17: 122. Published online 2022 Mar 9. doi: 10.1186/s13023-022-02265-1

PMCID:: PMC8905910

Abstract Article PDF–1.2M

Select item 827773412.

Leucine zipper transcription factor-like 1 (LZTFL1), an intraflagellar transporter protein 27 (IFT27) associated protein, is required for normal sperm function and male fertility

Qian Huang, Wei Li, Qi Zhou, Parirokh Awasthi, Caroline Cazin, Yitian Yap, Ljiljana Mladenovic-Lucas, Bo Hu, Pancharatnam Jeyasuria, Ling Zhang, James G. Granneman, Rex A Hess, Pierre F. Ray, Zine-Eddine Kherraf, Ven Natarajan, Zhibing Zhang

Dev Biol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Dev Biol. 2021 Sep; 477: 164–176. Published online 2021 May 20. doi: 10.1016/j.ydbio.2021.05.006

PMCID:: PMC8277734

Abstract Article PDF–2.0M

Select item 827291513.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill Anne Mokry, Maxim Y. Wolf, Azita Sadeghpour, Kelsey McFadden, Richard A. Lewis, Michael E. Talkowski, Hélène Dollfus, Manolis Kellis, Erica E. Davis, Shamil R. Sunyaev, Nicholas Katsanis

Nat Genet. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Nat Genet. 2020 Nov; 52(11): 1145–1150. Published online 2020 Oct 12. doi: 10.1038/s41588-020-0707-1

PMCID:: PMC8272915

Abstract Article PDF–1.8M

Select item 806187114.

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment

Thomas K. Pak, Calvin S. Carter, Qihong Zhang, Sunny C. Huang, Charles Searby, Ying Hsu, Rebecca J. Taugher, Tim Vogel, Christopher C. Cychosz, Rachel Genova, Nina N. Moreira, Hanna Stevens, John A. Wemmie, Andrew A. Pieper, Kai Wang, Val C. Sheffield

PLoS Genet. 2021 Apr; 17(4): e1009484. Published online 2021 Apr 22. doi: 10.1371/journal.pgen.1009484

PMCID:: PMC8061871

Abstract Article PDF–3.2M

Select item 769102715.

Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis

Kentaro Horiuchi, Tomomi Kogiso, Takaomi Sagawa, Taito Ito, Makiko Taniai, Kenichiro Miura, Motoshi Hattori, Naoya Morisada, Etsuko Hashimoto, Katsutoshi Tokushige

Intern Med. 2020 Nov 1; 59(21): 2719–2724. Published online 2020 Nov 1. doi: 10.2169/internalmedicine.5045-20