Publications:

---

Calpain activity is negatively regulated by a KCTD7-Cullin-3 complex via non-degradative ubiquitination.

Cell Discovery

Sharma, Jaiprakash J; Mulherkar, Shalaka S; Chen, Uan-I UI; Xiong, Yan Y; Bajaj, Lakshya L; Cho, Byoung-Kyu BK; Goo, Young Ah YA; Leung, Hon-Chiu Eastwood HE; Tolias, Kimberley F KF; Sardiello, Marco M

Publication Date: 2023-03-24

Variant appearance in text: KCTD7: R184C

PubMed Link: 36964131

Variant Present in the following documents:

• 41421_2023_533_MOESM1_ESM.pdf

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCTD7: 550C>T; Arg184Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Neurogenetics

Refeat, Miral M MM; Naggar, Walaa El WE; Saied, Mostafa M El MME; Kilany, Ayman A

Publication Date: 2022-11-26

Variant appearance in text: CLN14: Arg184Cys

PubMed Link: 36435927

Variant Present in the following documents:

• Main text

View BVdb publication page

---

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances

Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H

Publication Date: 2022-08-05

Variant appearance in text: KCTD7: R184C

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

View BVdb publication page

---

Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy.

Biomedicines

Poliquin, Sarah S; Kang, Jing-Qiong JQ

Publication Date: 2022-03-11

Variant appearance in text: KCTD7: R184C

PubMed Link: 35327449

Variant Present in the following documents:

• Main text
• biomedicines-10-00647.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCTD7: 550C>T; Arg184Cys; rs387907246

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCTD7: 550C>T; Arg184Cys

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

---

Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.

Scientific Reports

Smaldone, Giovanni G; Balasco, Nicole N; Pirone, Luciano L; Caruso, Daniela D; Di Gaetano, Sonia S; Pedone, Emilia Maria EM; Vitagliano, Luigi L

Publication Date: 2019-07-19

Variant appearance in text: KCTD7: R184C

PubMed Link: 31324836

Variant Present in the following documents:

• Main text
• 41598_2019_Article_46911.pdf

View BVdb publication page

---

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Annals Of Neurology

Metz, Kyle A KA; Teng, Xinchen X; Coppens, Isabelle I; Lamb, Heather M HM; Wagner, Bart E BE; Rosenfeld, Jill A JA; Chen, Xianghui X; Zhang, Yu Y; Kim, Hee Jong HJ; Meadow, Michael E ME; Wang, Tim Sen TS; Haberlandt, Edda D ED; Anderson, Glenn W GW; Leshinsky-Silver, Esther E; Bi, Weimin W; Markello, Thomas C TC; Pratt, Marsha M; Makhseed, Nawal N; Garnica, Adolfo A; Danylchuk, Noelle R NR; Burrow, Thomas A TA; Jayakar, Parul P; McKnight, Dianalee D; Agadi, Satish S; Gbedawo, Hatha H; Stanley, Christine C; Alber, Michael M; Prehl, Isabelle I; Peariso, Katrina K; Ong, Min Tsui MT; Mordekar, Santosh R SR; Parker, Michael J MJ; Crooks, Daniel D; Agrawal, Pankaj B PB; Berry, Gerard T GT; Loddenkemper, Tobias T; Yang, Yaping Y; Maegawa, Gustavo H B GHB; Aouacheria, Abdel A; Markle, Janet G JG; Wohlschlegel, James A JA; Hartman, Adam L AL; Hardwick, J Marie JM

Publication Date: 2018-11

Variant appearance in text: CLN14: R184C

PubMed Link: 30295347

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

Frontiers In Genetics

George, Arlene J AJ; Hoffiz, Yarely C YC; Charles, Antoinette J AJ; Zhu, Ying Y; Mabb, Angela M AM

Publication Date: 2018

Variant appearance in text: KCTD7: R184C

PubMed Link: 29491882

Variant Present in the following documents:

• Table2.xlsx, sheet 1

View BVdb publication page

---

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: KCTD7: 550C>T; R184C

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: EPM3: R184C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCTD7: R184C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

The emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications.

The Embo Journal

Genschik, Pascal P; Sumara, Izabela I; Lechner, Esther E

Publication Date: 2013-08-28

Variant appearance in text: KCTD7: R184C

PubMed Link: 23912815

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

American Journal Of Human Genetics

Staropoli, John F JF; Karaa, Amel A; Lim, Elaine T ET; Kirby, Andrew A; Elbalalesy, Naser N; Romansky, Stephen G SG; Leydiker, Karen B KB; Coppel, Scott H SH; Barone, Rosemary R; Xin, Winnie W; MacDonald, Marcy E ME; Abdenur, Jose E JE; Daly, Mark J MJ; Sims, Katherine B KB; Cotman, Susan L SL

Publication Date: 2012-07-13

Variant appearance in text: KCTD7: 550C>T

PubMed Link: 22748208

Variant Present in the following documents:

• Main text

View BVdb publication page

---