Literature DB >> 28050684

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.

Arushi Gahlot Saini1, Hansashree Padmanabh1, Jitendra Kumar Sahu1, Ingo Kurth2, Martin Voigt2, Pratibha Singhi3.   

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Year:  2017        PMID: 28050684     DOI: 10.1007/s12098-016-2284-y

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


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  2 in total

Review 1.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

2.  Transcriptional regulator PRDM12 is essential for human pain perception.

Authors:  Ya-Chun Chen; Michaela Auer-Grumbach; Shinya Matsukawa; Manuela Zitzelsberger; Andreas C Themistocleous; Tim M Strom; Chrysanthi Samara; Adrian W Moore; Lily Ting-Yin Cho; Gareth T Young; Caecilia Weiss; Maria Schabhüttl; Rolf Stucka; Annina B Schmid; Yesim Parman; Luitgard Graul-Neumann; Wolfram Heinritz; Eberhard Passarge; Rosemarie M Watson; Jens Michael Hertz; Ute Moog; Manuela Baumgartner; Enza Maria Valente; Diego Pereira; Carlos M Restrepo; Istvan Katona; Marina Dusl; Claudia Stendel; Thomas Wieland; Fay Stafford; Frank Reimann; Katja von Au; Christian Finke; Patrick J Willems; Michael S Nahorski; Samiha S Shaikh; Ofélia P Carvalho; Adeline K Nicholas; Gulshan Karbani; Maeve A McAleer; Maria Roberta Cilio; John C McHugh; Sinead M Murphy; Alan D Irvine; Uffe Birk Jensen; Reinhard Windhager; Joachim Weis; Carsten Bergmann; Bernd Rautenstrauss; Jonathan Baets; Peter De Jonghe; Mary M Reilly; Regina Kropatsch; Ingo Kurth; Roman Chrast; Tatsuo Michiue; David L H Bennett; C Geoffrey Woods; Jan Senderek
Journal:  Nat Genet       Date:  2015-05-25       Impact factor: 38.330

  2 in total
  4 in total

1.  A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).

Authors:  Beena Suresh; Vaishnavi Reddy; Ingo Kurth; Sujatha Jagadeesh
Journal:  Neuroophthalmology       Date:  2018-08-22

2.  Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Authors:  Jose-Alberto Palma; Rachita Yadav; Dadi Gao; Lucy Norcliffe-Kaufmann; Susan Slaugenhaupt; Horacio Kaufmann
Journal:  Neurol Genet       Date:  2021-03-03

3.  Loss of Prdm12 during development, but not in mature nociceptors, causes defects in pain sensation.

Authors:  Mark A Landy; Megan Goyal; Katherine M Casey; Chen Liu; Helen C Lai
Journal:  Cell Rep       Date:  2021-03-30       Impact factor: 9.423

Review 4.  PRDM12 in Health and Diseases.

Authors:  Monica Rienzo; Erika Di Zazzo; Amelia Casamassimi; Patrizia Gazzerro; Giovanni Perini; Maurizio Bifulco; Ciro Abbondanza
Journal:  Int J Mol Sci       Date:  2021-11-06       Impact factor: 5.923

  4 in total

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